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Incidence Statistics for Types of Congenital conditions -- physical defects

The information below shows a list of types of Congenital conditions -- physical defects, with information as to the annual incidence of each of these types of Congenital conditions -- physical defects. Estimates of the people affected each year are calculated based on the available statistics.

Incidence Statistics for Types of Congenital conditions -- physical defects

Disease

Incidence Estimate

US people estimate

Statistic Used for Calculation

Orofacial Cleft 12 N/A N/A No information
Orofacial Cleft 11 N/A N/A No information
Orofacial Cleft 10 N/A N/A No information
Orofacial Cleft 9 N/A N/A No information
Orofacial Cleft 8 N/A N/A No information
Orofacial Cleft 7 N/A N/A No information
Orofacial Cleft 6, Suseptibility to, N/A N/A No information
Orofacial Cleft 5 N/A N/A No information
Orofacial Cleft 4 N/A N/A No information
Orofacial Cleft 3 N/A N/A No information
Orofacial Cleft 2 N/A N/A No information
Orofacial Cleft 1 N/A N/A No information
Orofacial Cleft N/A N/A No information
Triphalangeal thumb N/A N/A No information
Supernumeracy Carpal Bones N/A N/A No information
Brachymetatarsalia N/A N/A No information
Brachymetatarsalism N/A N/A No information
Brachymetacarpalism N/A N/A No information
Brachymetacarpalia N/A N/A No information
Ulnar Ray Deficiency N/A N/A No information
Radial Ray Deficiency N/A N/A No information
Terminal Transverse Defect N/A N/A No information
Angel-Shaped Phalanges N/A N/A No information
Fromont Anomaly N/A N/A No information
Polydactyly, Preaxial 1 N/A N/A No information
Polydactyly, Preaxial 2 N/A N/A No information
Polydactyly, Preaxial 3 N/A N/A No information
Congenital Athyma N/A N/A No information
Undescended Testicle approx 1 in 66 or 1.50% or 4.1 million people in USA 4,080,000 3% of male babies; about 30% of premature male babies.
Cryptorchidism N/A N/A No information
Congenital heart septum defect N/A N/A No information
Symmastia N/A N/A No information
Congenital adrenal hyperplasia N/A N/A No information
Meckel's diverticulum N/A N/A No information
Diverticulosis of the ileum N/A N/A No information
Anophthalmos N/A N/A No information
Anorchidia N/A N/A No information
Ehlers-Danlos syndrome, Beasley Cohen type N/A N/A No information
Ehlers-Danlos syndrome, progeroid form N/A N/A No information
Ehlers-Danlos syndrome with periventricular heterotopia N/A N/A No information
Microtia type I N/A N/A No information
Microtia type II N/A N/A No information
Microtia type III N/A N/A No information
Microtia type IV N/A N/A No information
Microdontia -- type I microtia -- deafness N/A N/A No information
Microgastria short stature diabetes N/A N/A No information
Microlissencephaly N/A N/A No information
Microlissencephaly -- micromelia N/A N/A No information
Microphthalmia -- ankyloblepharon -- mental retardation N/A N/A No information
Microphthalmia -- brain atrophy N/A N/A No information
Opitz G/BBB Syndrome N/A N/A No information
Opitz G Syndrome N/A N/A No information
Opitz G/BBB Syndrome, Type II N/A N/A No information
Opitz G/BBB syndrome, Autosomal dominant N/A N/A No information
Opitz G/BBB Syndrome, type I N/A N/A No information
Opitz G/BBB Syndrome, X-linked N/A N/A No information
Pfeiffer Syndrome Type I N/A N/A No information
Pfeiffer Syndrome Type II N/A N/A No information
Pfeiffer Syndrome Type III N/A N/A No information
Acrocephalosyndactyly Syndrome type 5 N/A N/A No information
Acrocephalosyndactyly type 5 (ACPS 5) N/A N/A No information
Pfeiffer syndrome N/A N/A No information
Pfeiffer syndrome Type 1 N/A N/A No information
Pfeiffer syndrome Type 2 N/A N/A No information
Pfeiffer syndrome Type 3 N/A N/A No information
Aberrant subclavian artery abnormality N/A N/A No information
Absence of gluteal muscle N/A N/A No information
Absence of tibia N/A N/A No information
Absence of tibia with polydactyly N/A N/A No information
Absent breasts and nipples N/A N/A No information
Absence of pulmonary artery N/A N/A No information
Absence of septum pellucidum N/A N/A No information
Ehlers-Danlos syndrome type V N/A N/A No information
Ehlers-Danlos syndrome type X N/A N/A No information
Ehlers-Danlos syndrome, 6B N/A N/A No information
Ehlers-Danlos syndrome N/A N/A No information
Ehlers-Danlos syndrome, hypermobile type N/A N/A No information
Ehlers-Danlos syndrome, hypermobility type N/A N/A No information
Ehlers-Danlos syndrome, progeroid form 2 N/A N/A No information
Ehlers-Danlos syndrome type II N/A N/A No information
Ehlers-Danlos syndrome, arthrochalasic type N/A N/A No information
Ehlers-Danlos syndrome type VIII N/A N/A No information
Ehlers-Danlos syndrome type VI N/A N/A No information
Ehlers-Danlos syndrome type IV N/A N/A No information
Ehlers-Danlos syndrome type IX N/A N/A No information
Ehlers-Danlos syndrome, vascular type N/A N/A No information
Ehlers-Danlos syndrome, dermatospraxis type N/A N/A No information
Ehlers-Danlos syndrome, kyphoscoliosis type N/A N/A No information
Ehlers-Danlos syndrome, tenascin-X deficiency N/A N/A No information
Ehlers-Danlos syndrome, cardiac valvular form N/A N/A No information
Opitz syndrome N/A N/A No information
Ehlers-Danlos syndrome type III N/A N/A No information
Ehlers-Danlos syndrome, classic type N/A N/A No information
Ehlers-Danlos syndrome Type I N/A N/A No information
Ehlers-Danlos syndrome, X-linked N/A N/A No information
Ehlers-Danlos syndrome, VIIB N/A N/A No information
Ehlers-Danlos Syndrome, Dysfibronectinemic type N/A N/A No information
Ehlers-Danlos syndrome with Platelet Dysfunction from Fibronectin Abnormality N/A N/A No information
Ehlers-Danlos syndrome type VII N/A N/A No information
Ehlers-Danlos syndrome caused by tenascin-X deficiency N/A N/A No information
Ehlers Danlos syndrome type 4, autosomal dominant N/A N/A No information
Ehlers-Danlos, syndrome, periodontitis type N/A N/A No information
Ehlers-Danlos syndrome type 3 N/A N/A No information
Ehlers-Danlos syndrome type 4 N/A N/A No information
Ehlers-Danlos syndrome, dermatosparaxis type N/A N/A No information
Polydactyly preaxial N/A N/A No information
Syndactyly type 1 N/A N/A No information
Syndactyly type 1 -- subtype 1 N/A N/A No information
Syndactyly type 1 -- subtype 2 N/A N/A No information
Syndactyly type 1 -- subtype 3 N/A N/A No information
Syndactyly type 1 -- subtype 4 N/A N/A No information
Syndactyly N/A N/A No information
Syndactyly, type 2 N/A N/A No information
Syndactyly, type 3 N/A N/A No information
Syndactyly type 5 N/A N/A No information
Chiari Malformation N/A N/A No information
Chiari-1 Malformation N/A N/A No information
Arnold-Chiari Malformation (Type 1) N/A N/A No information
Arnold-Chiari Syndrome N/A N/A No information
Arnold-Chiari malformation type 2 N/A N/A No information
Arnold-Chiari malformation type 3 N/A N/A No information
Arnold-Chiari malformation type 4 N/A N/A No information
Mental retardation, Buenos Aires type N/A N/A No information
Cephalic disorders N/A N/A No information
Neural tube defect approx 1 in 58,772 or 0.00% or 4,627 people in USA 4,627 11.57 per 10,000 births with neural tube defects in the UK 2002 (University of Ulster, 2003)
Bardet-Biedl syndrome, type 9 N/A N/A No information
Bardet-Biedl syndrome, type 8 N/A N/A No information
Bardet-Biedl Syndrome N/A N/A No information
Bardet-Biedl syndrome, type 10 N/A N/A No information
Bardet-Biedl syndrome, type 11 N/A N/A No information
Bardet-Biedl syndrome, type 12 N/A N/A No information
Bardet-Biedl syndrome, type 1 N/A N/A No information
Bardet-Biedl syndrome, type 2 N/A N/A No information
Bardet-Biedl syndrome, type 3 N/A N/A No information
Bardet-Biedl syndrome, type 4 N/A N/A No information
Bardet-Biedl syndrome, type 5 N/A N/A No information
Bardet-Biedl syndrome, type 7 N/A N/A No information
Bardet-Biedl syndrome, type 6 N/A N/A No information
Polydactyly N/A N/A No information
Congenital short femur N/A N/A No information
Klippel-Feil syndrome recessive type N/A N/A No information
Klippel-Feil syndrome, dominant type N/A N/A No information
Frontonasal dysplasia -- Klippel Feil syndrome N/A N/A No information
Klippel Feil Syndrome N/A N/A No information
Klippel Feil deformity conductive deafness absent vagina N/A N/A No information
Agenesis of the corpus callosum N/A N/A No information
Anencephaly approx 1 in 68,000 or 0.00% or 4,000 people in USA 4,000 less than 4,000 cases (the rate for spina bifida and anencephaly, NWHIC)
Dandy-Walker Syndrome N/A N/A No information
Empty Sella Syndrome N/A N/A No information
Hydranencephaly N/A N/A No information
Mobius syndrome N/A N/A No information
Neuronal Migration Disorders N/A N/A No information
Holoprosencephaly approx 1 in 285,714 or 0.00% or 951 people in USA 951 2.38 per 10,000 births in the UK 2002 for arhinencephaly/holprosencephaly (University of Ulster, 2003)
Congenital malformations N/A N/A No information
Cleft palate approx 1 in 47,600 or 0.00% or 5,714 people in USA 5,714 about 1 in 700 births
Congenital heart defects approx 1 in 8,159 or 0.01% or 33,333 people in USA 33,333 about 1 in 120 babies
Split hand/split foot malformation, autosomal recessive N/A N/A No information
Hypospadias 1, X-linked N/A N/A No information
Hypospadias 2, X-linked N/A N/A No information
Hypospadias 3, Autosomal N/A N/A No information
Hypospadias N/A N/A No information
Epispadias N/A N/A No information
Extra Nipples N/A N/A No information
Hypertelorism with esophageal abnormality and hypospadias N/A N/A No information
Spina bifida -- hypospadias N/A N/A No information
Myopathy -- growth and mental retardation -- hypospadias N/A N/A No information
Preaxial deficiency, postaxial polydactyly and hypospadias N/A N/A No information
Tracheoesophageal fistula -- hypospadias N/A N/A No information
Hypospadias familial N/A N/A No information
Preaxial deficiency postaxial polydactyly hypospadias N/A N/A No information
Hypertelorism -- esophageal abnormalities -- hypospadias N/A N/A No information
Hypospadias -- hypertelorism N/A N/A No information
Cataract -- intellectual deficit -- anal atresia -- urinary defects N/A N/A No information
Myopathy -- growth delay -- mental retardation -- hypospadias N/A N/A No information
Adducted thumbs -- arthrogryposis, Christian type N/A N/A No information
Facial clefting corpus callosum agenesis N/A N/A No information
Craniosynostosis -- brachysyndactyly of hands and absence of toes N/A N/A No information
Short stature valvular heart disease characteristic facies N/A N/A No information
Ulnar hypoplasia with mental retardation N/A N/A No information
Aniridia cerebellar ataxia mental deficiency N/A N/A No information
White matter hypoplasia, corpus callosum agenesia, and mental retardation N/A N/A No information
X-linked mental retardation craniofacial abnormal microcepahly club N/A N/A No information
Vitiligo mental retardation facial dysmorphism uremia N/A N/A No information
Blepharophimosis -- ptosis -- syndactyly -- mental retardation N/A N/A No information
Brachydactyly -- dwarfism -- mental retardation N/A N/A No information
Cleft lip -- palate -- mental retardation -- corneal opacity N/A N/A No information
Brachydactyly -- mesomelia -- mental retardation -- heart defects N/A N/A No information
Extrasystoles -- short stature -- hyperpigmentation -- microcephaly N/A N/A No information
Median cleft lip, corpus callosum, lipoma, and skin polyps N/A N/A No information
Polydactyly -- myopia syndrome N/A N/A No information
Mental retardation sparse hair brachydactyly N/A N/A No information
Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity N/A N/A No information
Mental retardation, X-linked with brachydactyly and macroglossia N/A N/A No information
Brachydactyly -- anonychia N/A N/A No information
Dwarfism, short-limb -- absent fibulas -- very short digits N/A N/A No information
Severe mental retardation and absent nails of hallux and pollex N/A N/A No information
Hypotelorism -- cleft palate -- hypospadias N/A N/A No information
Hypoplastic thumbs -- hydranencephaly N/A N/A No information
Pterygia -- mental retardation -- facial dysmorphism N/A N/A No information
Delayed speech -- facial asymmetry -- strabismus -- ear lobe creases N/A N/A No information
Cleft palate -- stapes fixation -- oligodontia N/A N/A No information
Tibial aplasia -- ectrodactyly -- hydrocephalus N/A N/A No information
Microcephaly -- cervical spine fusion anomalies N/A N/A No information
Deafness -- nephritis -- anorectal malformation N/A N/A No information
Dandy-Walker malformation postaxial polydactyly N/A N/A No information
Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy N/A N/A No information
Deafness -- craniofacial syndrome N/A N/A No information
Microcephaly -- seizures -- mental retardation -- heart disorders N/A N/A No information
Short rib-polydactyly syndrome, Verma-Naumoff type N/A N/A No information
Deafness, congenital onychodystrophy, recessive form N/A N/A No information
Syndromic Dystelephalangy N/A N/A No information
Deafness symphalangism N/A N/A No information
Polytopic Dystelephalangy N/A N/A No information
Dystelephalangy N/A N/A No information
Split hand split foot nystagmus N/A N/A No information
Iris dysplasia hypertelorism deafness N/A N/A No information
Hypotrichosis, syndactyly and retinal degeneration N/A N/A No information
Craniosynostosis mental retardation clefting syndrome N/A N/A No information
Short stature -- Robin sequence -- cleft mandible -- hand anomalies -- clubfoot N/A N/A No information
Microcephaly -- sparse hair -- mental retardation -- seizures N/A N/A No information
Pachygyria -- mental retardation -- seizures N/A N/A No information
Deafness mixed with perilymphatic Gusher, X-linked N/A N/A No information
Deafness conductive -- ptosis -- skeletal anomalies N/A N/A No information
Oculo tricho anal syndrome N/A N/A No information
Aortic arch anomaly with peculiar facies and mental retardation N/A N/A No information
Anophthalmos with limb anomalies N/A N/A No information
Polydactyly visceral anomalies cleft lip palate N/A N/A No information
Short stature -- craniofacial anomalies -- genital hypoplasia N/A N/A No information
Pterygia -- Mental retardation -- Distinctive Craniofacial Features N/A N/A No information
Distinctive Craniofacial Features -- Pterygia -- Mental Retardation N/A N/A No information
Mental Retardation -- Pterygia -- Shortness -- Distinctive Facial Appearance N/A N/A No information
Craniosynostosis -- Dandy-Walker -- Hydrocephalus N/A N/A No information
Mental retardation athetosis microphthalmia N/A N/A No information
Mental retardation -- contractural arachnodactyly N/A N/A No information
Mental retardation -- skeletal dysplasia -- abducens palsy N/A N/A No information
Microcephaly with spastic quadriplegia N/A N/A No information
Pontoneocerebellar Hypoplasi N/A N/A No information
Short stature -- microcephaly -- seizures -- deafness N/A N/A No information
Overfolded helix N/A N/A No information
Mental retardation -- short stature -- unusual facies N/A N/A No information
Mental retardation -- nasal hypoplasia -- obesity -- genital hypoplasia N/A N/A No information
Mental retardation -- short stature -- absent phalanges N/A N/A No information
Mental retardation -- short stature -- deafness -- genital N/A N/A No information
Onychonychia -- hypoplastic distal phalanges N/A N/A No information
Mental retardation, X-linked, syndromic 11 N/A N/A No information
Micromelic dysplasia -- dislocation of radius N/A N/A No information
Reductional transverse limb defects N/A N/A No information
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance N/A N/A No information
Short limbs -- abnormal face -- congenital heart disease N/A N/A No information
ATRUS syndrome N/A N/A No information
Aural atresia -- multiple congenital anomalies -- mental retardation N/A N/A No information
Auricular abnormalities -- cleft lip with or without cleft palate -- ocular abnormalities N/A N/A No information
Auriculoocular anomalies -- cleft lip N/A N/A No information
Congenital heart disease radio ulnar synostos mental retardation N/A N/A No information
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate N/A N/A No information
Macrocephaly -- mental retardation -- facial dysmorphism N/A N/A No information
Macrocephaly mesodermal hamartoma spectrum N/A N/A No information
Macrostomia -- preauricular tags -- external ophthalmoplegia N/A N/A No information
Lymphoedema -- cleft palate N/A N/A No information
Unusual facies, macrocephaly, aplasia of corpus callosum, seizures, hypertrichosis, claw hands and overlapping fingers N/A N/A No information
Chorioretinopathy -- microcephaly, autosomal recessive N/A N/A No information
Unusual facies, arachnodactyly, hypogenitalism and failure to thrive N/A N/A No information
Facio-auriculo-radial dysplasia N/A N/A No information
Lethal arthrogryposis with anterior horn cell disease N/A N/A No information
Diabetes mellitus, permanent neonatal -- pancreatic and cerebellar agenesis N/A N/A No information
Midface hypoplasia, corneal clouding, subvalvular aortic stenosis and mental and somatic retardation N/A N/A No information
Unusual facies, short webbed neck, mental retardation, short stature N/A N/A No information
Microcephaly -- microphthalmia -- ectrodactyly of lower limbs -- prognathism N/A N/A No information
Tetralogy of Fallot N/A N/A No information
Transposition of the great arteries N/A N/A No information
Atrial Septal Defect N/A N/A No information
Sternal malformation vascular dysplasia association N/A N/A No information
Undescended testes N/A N/A No information
Patella hypoplasia -- mental retardation N/A N/A No information
Renal-hepatic-pancreatic dysplasia -- Dandy Walker cyst N/A N/A No information
Orofaciodigital syndrome, Shashi type N/A N/A No information
Orofaciodigital syndrome type1 N/A N/A No information
Oral facial digital syndrome, type 4 N/A N/A No information
Orofaciodigital syndrome, type 3 N/A N/A No information
Sugarman syndrome N/A N/A No information
Orofaciodigital syndrome type 10 N/A N/A No information
Orofaciodigital syndrome type Thurston type N/A N/A No information
Orofaciodigital syndrome type I N/A N/A No information
OFD syndrome type Figuera N/A N/A No information
Oral facial digital syndrome N/A N/A No information
Oral facial digital syndrome, type IV N/A N/A No information
OFD syndrome type IX N/A N/A No information
OFD syndrome type 8 N/A N/A No information
Edwards Syndrome approx 1 in 3,000 or 0.03% or 90,666 people in USA 90,666 1-in-3000 approximately.
Thurston syndrome N/A N/A No information
Orofaciodigital syndrome Thurston type N/A N/A No information
Orofaciodigital syndrome, Gabrielli type N/A N/A No information
Oculopalatocerebral syndrome N/A N/A No information
Otopalatodigital Syndrome Type I and II N/A N/A No information
Otopalatodigital Syndrome Type I N/A N/A No information
Oto-Palato-Digital Syndrome N/A N/A No information
Oto-Palato-digital syndrome type 1 N/A N/A No information
Oto-palato-digital syndrome, type 2 N/A N/A No information
Oculopalatoskeletal syndrome N/A N/A No information
Oligodactyly -- tetramelic postaxial N/A N/A No information
Pulmonary valves agenesis N/A N/A No information
Bone dysplasia -- corpus callosum agenesis N/A N/A No information
Craniofacial dyssynostosis N/A N/A No information
Left-sided gallbladder N/A N/A No information
Olivopontocerebellar atrophy -- deafness N/A N/A No information
Microencephaly N/A N/A No information
Penis agenesis N/A N/A No information
Triopia N/A N/A No information
Adactylia unilateral dominant N/A N/A No information
Horseshoe kidney N/A N/A No information
Fibular aplasia N/A N/A No information
Microcephaly nonsyndromal N/A N/A No information
Right ventricle hypoplasia N/A N/A No information
Rothmund-Thomson Syndrome N/A N/A No information
Facial ectodermal dysplasia N/A N/A No information
Setleis Syndrome N/A N/A No information
Focal facial dermal dysplasia, type II N/A N/A No information
Galloway-Mowat Syndrome N/A N/A No information
Galloway syndrome N/A N/A No information
Nephrosis neuronal dysmigration Syndrome N/A N/A No information
Wilms tumor -- aniridia -- genitourinary anomalies -- mental retardation N/A N/A No information
WAGR Syndrome N/A N/A No information
Aniridia N/A N/A No information
Aniridia III N/A N/A No information
Aniridia I N/A N/A No information
Aniridia II N/A N/A No information
Aniridia -- absent patella N/A N/A No information
Aniridia -- mental retardation syndrome N/A N/A No information
Aniridia, sporadic N/A N/A No information
Porencephaly N/A N/A No information
Poland Syndrome N/A N/A No information
Myhre Syndrome N/A N/A No information
Facial dysmorphism -- intellectual deficit -- short stature -- hearing loss N/A N/A No information
Partial agenesis of corpus callosum N/A N/A No information
Partial lissencephaly N/A N/A No information
Noonan syndrome 3 N/A N/A No information
Noonan-like/multiple giant cell lesion syndrome N/A N/A No information
Noonan-like syndrome N/A N/A No information
Neurofibromatosis-Noonan syndrome N/A N/A No information
Noonan Syndrome N/A N/A No information
Oculoauriculovertebral (OAV) dysplasia N/A N/A No information
Goldenhar Syndrome N/A N/A No information
Jackson-Weiss Syndrome N/A N/A No information
Branchio-oto-renal (BOR) syndrome, type 2 N/A N/A No information
Branchiootic syndrome N/A N/A No information
Branchiootic syndrome 1 N/A N/A No information
Branchiootic syndrome 2 N/A N/A No information
Branchiootic syndrome 3 N/A N/A No information
Branchio-Oto-Renal Syndrome N/A N/A No information
Branchio-Oculo-Facial Syndrome N/A N/A No information
Branchio-otoureteral syndrome N/A N/A No information
Branchio oculo facial syndrome Hing type N/A N/A No information
Branchio-skeleto-genital syndrome N/A N/A No information
Branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and N/A N/A No information
Branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct N/A N/A No information
Branchial arch syndrome X-linked N/A N/A No information
Microcornea -- cataract -- coloboma syndrome N/A N/A No information
Cataract, microphthalmia and nystagmus N/A N/A No information
Microphthalmis, isolated, with cataract 1 N/A N/A No information
Bifid nose N/A N/A No information
Hypertrichosis retinopathy dysmorphism N/A N/A No information
Spinal muscular atrophy -- Dandy-Walker complex -- cataracts N/A N/A No information
Split hand -- split foot N/A N/A No information
Split hand -- split foot -- deafness N/A N/A No information
Microcephaly -- lymphoedema -- chorioretinopathy N/A N/A No information
Microcephaly -- lymphoedema -- Chorioretinopathy Dysplasia Syndrome N/A N/A No information
MLCRD Syndrome N/A N/A No information
Lymphoedema -- Microcephaly -- Chorioretinopathy Syndrome N/A N/A No information
Lymphoedema -- Microcephaly -- chorioretinopathy N/A N/A No information
Laryngeal web congenital heart disease short stature N/A N/A No information
Atrial Septal Defect 6 N/A N/A No information
Atrial Septal Defect 5 N/A N/A No information
Atrial Septal Defect 4 N/A N/A No information
Atrial Septal Defect 3 N/A N/A No information
Aglossia N/A N/A No information
Hypoglossia N/A N/A No information
Hypoglossia -- Hypodactylomelia N/A N/A No information
Hypoglossia -- Hypomelia N/A N/A No information
Hypoglossia -- Hypodactylia N/A N/A No information
Glossopalatine Ankylosis -- Hypoglossia -- Hypodactylomelia N/A N/A No information
Glossopalatine Ankylosis -- Hypoglossia -- Hypomelia N/A N/A No information
Glossopalatine Ankylosis -- Hypoglossia -- Hypodactylia N/A N/A No information
Glossopalatine Ankylosis -- Hypoglossia N/A N/A No information
Intraoral Bands -- Hypoglossia -- Hypodactylomelia N/A N/A No information
Intraoral Bands -- Hypoglossia N/A N/A No information
Intraoral Bands and Fusion N/A N/A No information
Aglossia-Hypoactylia syndrome N/A N/A No information
Micrognathia with Peromelia N/A N/A No information
Aglossia-Adactylia syndrome N/A N/A No information
Isolated Hypoglossia N/A N/A No information
Hypoglossia with Situs Inversus N/A N/A No information
Oromandibular and Limb Hypogenesis Syndrome, Type III N/A N/A No information
Oromandibular and Limb Hypogenesis Syndrome, Type II N/A N/A No information
Oromandibular and Limb Hypogenesis Syndrome, Type I N/A N/A No information
Microcephaly, primary autosomal recessive, 1 N/A N/A No information
Microcephaly, primary autosomal recessive, 2 N/A N/A No information
Microcephaly, primary autosomal recessive, 4 N/A N/A No information
Microcephaly, primary autosomal recessive, 5 N/A N/A No information
Microcephaly, primary autosomal recessive, 6 N/A N/A No information
Micrencephaly olivopontocerebellar hypoplasia N/A N/A No information
Nanophthalmos 1 N/A N/A No information
Nanophthalmos 2 N/A N/A No information
Nanophthalmos 3 N/A N/A No information
Nanophthalmia N/A N/A No information
Retinal degeneration -- nanophthalmos -- glaucoma N/A N/A No information
Coronary arteries -- congenital malformation N/A N/A No information
Brachydactyly type B N/A N/A No information
Brachydactyly type C N/A N/A No information
Brachydactyly type E N/A N/A No information
Brachydactyly type A1 N/A N/A No information
Brachydactyly type A3 N/A N/A No information
Brachydactyly type A6 N/A N/A No information
Brachydactyly types B and E combined N/A N/A No information
Brachydactyly with hypertension N/A N/A No information
Brachydactyly, type A5, nail dysplasia N/A N/A No information
Brachydactyly preaxial with hallux varus and thumb abduction N/A N/A No information
Brachydactyly, long thumb type N/A N/A No information
Brachydactyly -- scoliosis -- carpal fusion N/A N/A No information
Brachydactyly type A2 N/A N/A No information
Brachydactyly, type a7 N/A N/A No information
Brachydactyly -- absence of distal phalanges N/A N/A No information
Brachydactyly -- tibial hypoplasia N/A N/A No information
Brachydactyly -- arterial hypertension N/A N/A No information
Brachydactyly, type B2 N/A N/A No information
Brachydactyly type D N/A N/A No information
Split hand split foot mandibular hypoplasia N/A N/A No information
Arthrogryposis multiplex congenita type 2B N/A N/A No information
Arthrogryposis multiplex congenita -- pulmonary hypoplasia N/A N/A No information
Arthrogryposis multiplex congenita, distal, X-linked N/A N/A No information
Arthrogryposis multiplex congenita neurogenic type N/A N/A No information
Arthrogryposis multiplex congenita, distal type 1 N/A N/A No information
Arthrogryposis multiplex with deafness, inguinal hernias, and early death N/A N/A No information
Atrial septal defect 1 N/A N/A No information
Atrial septal defect 2 N/A N/A No information
Atrial septal defect atrioventricular conduction N/A N/A No information
Lymphoedema -- atrial septal defects -- facial changes N/A N/A No information
Congenital short bowel N/A N/A No information
Familial supernumerary nipples N/A N/A No information
Esophageal atresia N/A N/A No information
Lissencephaly, type 1, isolated, without known genetic defects N/A N/A No information
Brachymetatarsus IV N/A N/A No information
Congenital mitral stenosis N/A N/A No information
Lissencephaly type III -- metacarpal bone dysplasia N/A N/A No information
Saethre-Chotzen Syndrome N/A N/A No information
Acrocephalopolydactyly II N/A N/A No information
Carpenter syndrome N/A N/A No information
Acrocephalosyndactyly II N/A N/A No information
Acrocephalosyndactyly N/A N/A No information
Acrocephalopolydactyly N/A N/A No information
Acrocephalopolysyndactyly type III N/A N/A No information
Acrocephalosyndactyly type 3 (ACPS 3) N/A N/A No information
Acrocephalopolysyndactyly, type 2 (ACPS 2) N/A N/A No information
Acrocephalopolydactyly -- Cardiac Disease -- Ear, Skin and Lower Limb Defects N/A N/A No information
ACPS III N/A N/A No information
Trichorhinophalangeal Syndrome Type II N/A N/A No information
Trichorhinophalangeal Syndrome Type I N/A N/A No information
Trichorhinophalangeal syndrome type 1 N/A N/A No information
Trichorhinophalangeal syndrome type 3 N/A N/A No information
Trichorhinophalangeal Syndrome Type III N/A N/A No information
Trichorhinophalangeal syndrome type 2 N/A N/A No information
Multiple congenital contractures N/A N/A No information
Atrioventricular Septal Defects N/A N/A No information
Atrioventricular septal defect N/A N/A No information
Hypoplastic Left Heart Syndrome N/A N/A No information
Heart defects -- limb shortening N/A N/A No information
Triphalangeal thumb, non opposable N/A N/A No information
Pena Shokeir syndrome, type 1 N/A N/A No information
Pena-Shokeir syndrome Type 2 N/A N/A No information
COFS syndrome N/A N/A No information
Cerebro-Oculo-Facio-Skeletal Syndrome N/A N/A No information
Heart-hand syndrome, Spanish type N/A N/A No information
Heart-hand syndrome, Slovenian type N/A N/A No information
Holt-Oram Syndrome N/A N/A No information
Insulin resistance, short fifth metacarpals N/A N/A No information
Aorto-ventricular tunnel N/A N/A No information
Lissencephaly syndrome type 1 N/A N/A No information
Microcephaly, primary autosomal recessive, 7 N/A N/A No information
Pancreatic beta cell agenesis with neonatal diabetes mellitus N/A N/A No information
Radial ray agenesis N/A N/A No information
Bird-headed dwarfism with progressive ataxia, Insulin-resistant diabetes, goiter and primary gonadal insufficiency N/A N/A No information
Corpus callosum agenesis double urinary collecting system and trigonocephaly N/A N/A No information
Corpus callosum agenesis double urinary collecting N/A N/A No information
Proteus like syndrome mental retardation eye defect N/A N/A No information
Pancreas agenesis, dorsal N/A N/A No information
Lissencephaly, type 1, X-linked N/A N/A No information
Cleft lip with or without cleft palate N/A N/A No information
Cleft Palate and Cleft Lip N/A N/A No information
Cleft palate cardiac defect ectrodactyly N/A N/A No information
Cleft palate colobomata radial synostosis deafness N/A N/A No information
Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss N/A N/A No information
Lissencephaly, X linked -- agenesis of the corpus callosum -- genital anomalies N/A N/A No information
Lissencephaly -- immunodeficiency N/A N/A No information
Lissencephaly, isolated N/A N/A No information
Lissencephaly with cerebellar hypoplasia N/A N/A No information
Lissencephaly, X-linked, 1 N/A N/A No information
Lissencephaly with cerebellar hypoplasia, recessive N/A N/A No information
Lissencephaly type 2 N/A N/A No information
Lissencephaly, X-linked 2 N/A N/A No information
Lissencephaly type 1, due to LIS 1 anomalies N/A N/A No information
Seckel syndrome 4 N/A N/A No information
Seckel syndrome 1 N/A N/A No information
Seckel syndrome 2 N/A N/A No information
Seckel syndrome 3 N/A N/A No information
Preaxial polydactyly type III N/A N/A No information
Seckel syndrome N/A N/A No information
Seckel-like syndrome, type Buebel N/A N/A No information
Seckel-like syndrome, Majoor-Krakauer type N/A N/A No information
Gordon Syndrome N/A N/A No information
Adams-Oliver Syndrome N/A N/A No information
Lenz Microphthalmia Syndrome N/A N/A No information
Arthrogryposis, distal, type 2A N/A N/A No information
Freeman-Sheldon Syndrome N/A N/A No information
Whistling face syndrome N/A N/A No information
Arthrogryposis, distal, type 2B N/A N/A No information
Cleft palate -- lateral synechia syndrome N/A N/A No information
Cutis laxa congenital N/A N/A No information
Ichthyosis congenital -- biliary atresia N/A N/A No information
Congenital Hemidysplasia with Ichthyosiform erythroderma and Limbs Defects N/A N/A No information
Hydrocephalus -- costovertebral dysplasia -- Sprengel anomaly N/A N/A No information
Ichthyosis congenita, harlequin type N/A N/A No information
Ichthyosis congenita, Harlequin fetus type N/A N/A No information
Harlequin syndrome N/A N/A No information
Harlequin type ichthyosis N/A N/A No information
Campomelic dysplasia N/A N/A No information
Campomelic dwarfism N/A N/A No information
Camptomelic syndrome N/A N/A No information
Camptomelic dysplasia II N/A N/A No information
Campomelic Syndrome N/A N/A No information
Borjeson-Forssman-Lehmann Syndrome N/A N/A No information
Congenital giant megaureter N/A N/A No information
Hemolytic anaemia, lethal -- genital anomalies N/A N/A No information
Duane-radial ray syndrome N/A N/A No information
Carpal deformity -- micrognathia -- microstomia N/A N/A No information
Double fingernail of fifth finger N/A N/A No information
Cerebro-facio-thoracic dysplasia N/A N/A No information
Dominant cleft palate N/A N/A No information
Cleft lip palate -- oligodontia -- syndactyly -- pili torti N/A N/A No information
Bifid nose dominant N/A N/A No information
Absence of septum pellucidum with porencephalia syndrome N/A N/A No information
Acheiropodia N/A N/A No information
Stargardt Macular Degeneration, Absent or Hypoplastic Corpus Callosum, Mental Retardation and Dysmorphic Features N/A N/A No information
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance N/A N/A No information
Ulna Hemimelia N/A N/A No information
Radial Hemimelia N/A N/A No information
Fibular Hemimelia N/A N/A No information
Hemimelia N/A N/A No information
Tracheal agenesis without tracheoesophageal fistula N/A N/A No information
Type 1 Tracheal agenesis without tracheoesophageal fistula N/A N/A No information
Type 2 Tracheal agenesis without tracheoesophageal fistula N/A N/A No information
Type 3 Tracheal agenesis without tracheoesophageal fistula N/A N/A No information
Spina bifida approx 1 in 1,133,333 or 0.00% or 240 people in USA 240 6 per 100,000 births
Meningomyelocele N/A N/A No information
Renal agenesis -- meningomyelocele -- mullerian defect N/A N/A No information
Anencephaly and spina bifida X-linked N/A N/A No information
Lipomyelomeningocele N/A N/A No information
Meningocele N/A N/A No information
Sacral meningocele -- conotruncal heart defects N/A N/A No information
Sacral defect and anterior sacral meningocele N/A N/A No information
Lateral meningocele syndrome N/A N/A No information
Perineal hemangioma -- external genitalia malformations -- lipomyelomeningocele -- vesicorenal abnormalities -- imperforate anus N/A N/A No information
Atlanto-Axial Fusion N/A N/A No information
Corpus callosum dysgenesis X-linked recessive N/A N/A No information
Malformations in neuronal migration N/A N/A No information
Laryngeal webbing N/A N/A No information
Native American myopathy N/A N/A No information
Congenital muscular dystrophy syringomyelia N/A N/A No information
Muscular dystrophy -- congenital infantile cataract -- hypogonadism N/A N/A No information
Syringomyelia N/A N/A No information
Tethered Spinal Cord Syndrome N/A N/A No information
Syringomyelia, cervical lesion N/A N/A No information
Syringomyelia, medulla oblongata lesion N/A N/A No information
Syringomyelia, lumbar lesion N/A N/A No information
Diaphragm. congenital absence N/A N/A No information
Fryns Syndrome N/A N/A No information
Microphthalmia diaphragmatic hernia Fallot N/A N/A No information
Hydrocephaly corpus callosum agenesis diaphragmatic hernia N/A N/A No information
Congenital diaphragmatic hernia N/A N/A No information
Nasopharyngeal teratoma with Dandy-Walker -- diaphragmatic hernia N/A N/A No information
Diaphragmatic hernia -- upper limb defects N/A N/A No information
Diaphragmatic hernia -- exomphalos -- corpus callosum agenesis N/A N/A No information
Diaphragmatic hernia, congenital N/A N/A No information
Diaphragmatic defect -- limb deficiency -- skull defect N/A N/A No information
Asternia with Cardiac, Diaphragmatic, and Abdominal defects N/A N/A No information
Diaphragmatic agenesis -- radial aplasia -- omphalocele N/A N/A No information
Shprintzen omphalocele syndrome N/A N/A No information
Omphalocele -- exstrophy -- imperforate anus N/A N/A No information
Paraomphalocele N/A N/A No information
Holoprosencephaly deletion 2p N/A N/A No information
Humeroradioulnar synostosis N/A N/A No information
Meningoencephalocele -- arthrogryposis -- hypoplastic thumb N/A N/A No information
Morel's ear N/A N/A No information
Wilms tumor and radial bilateral aplasia N/A N/A No information
Pontoneocerebellar Hypoplasia N/A N/A No information
Duplication of leg mirror foot N/A N/A No information
Tetra-amelia with ectodermal dysplasia and lacrimal duct abnormalities N/A N/A No information
Pseudohermaphroditism, female -- skeletal anomalies N/A N/A No information
Mirror hand syndrome N/A N/A No information
Leg Duplication -- Mirror Foot N/A N/A No information
Aortic arch interruption N/A N/A No information
Congenital heart disease -- radio ulnar synostosis -- mental retardation N/A N/A No information
Thoraco abdominal enteric duplication N/A N/A No information
Franek-Bocker-Kahlen syndrome N/A N/A No information
Microcephaly brain defect spasticity hypernatremia N/A N/A No information
Corpus callosum, agenesis of, blepharophimosis Robin type N/A N/A No information
Diprosopia N/A N/A No information
Craniofacial dysostosis -- arthrogryposis -- progeroid appearence N/A N/A No information
Anophthalmia -- megalocornea -- cardiopathy -- skeletal anomalies N/A N/A No information
Guizar-Vasquez-Sanchez-Manzano syndrome N/A N/A No information
Common ventricle N/A N/A No information
Imperforate anus N/A N/A No information
Crossed polydactyly N/A N/A No information
Hirschsprung disease -- deafness -- polydactyly N/A N/A No information
Hirschsprung disease type D brachydactyly N/A N/A No information
Hirschsprung disease -- polydactyly -- heart disease N/A N/A No information
Cornelia de Lange Syndrome N/A N/A No information
Cornelia de Lange syndrome 2 N/A N/A No information
Cornelia de Lange syndrome 3 N/A N/A No information
Cornelia de Lange syndrome 1 N/A N/A No information
Velocardiofacial syndrome approx 1 in 3,000 or 0.03% or 90,666 people in USA 90,666 1-in-3000 approximately.
DiGeorge's syndrome N/A N/A No information
DiGeorge syndrome N/A N/A No information
Deletion 22q11 N/A N/A No information
Chromosome 22q11 Deletion Spectrum N/A N/A No information
CATCH 22 N/A N/A No information
Shprintzen syndorme N/A N/A No information
$22q11.2 deletion syndrome$ N/A N/A No information
Chromosome 22, microdeletion 22q11 N/A N/A No information
Chromosome 22q11.2 deletion syndrome N/A N/A No information
Chromosome 22q11 deletion N/A N/A No information
Coffin-Siris Syndrome N/A N/A No information
Femoral Hypoplasia-Unusual Facies Syndrome N/A N/A No information
Distichiasis with Congenital Anomalies of the heart and Peripheral Vasculature N/A N/A No information
Vildervanck syndrome 4 N/A N/A No information
Wildervanck syndrome 2 N/A N/A No information
Wildervanck syndrome 3 N/A N/A No information
Wildervanck syndrome N/A N/A No information
Miller Syndrome N/A N/A No information
Genee-Wiedemann syndrome N/A N/A No information
Craniosynostosis contractures cleft N/A N/A No information
Preaxial polydactyly, type 1 N/A N/A No information
Atypical coarctation of aorta N/A N/A No information
Asphyxiating Thoracic Dystrophy 3 N/A N/A No information
Asphyxiating Thoracic Dystrophy 2 N/A N/A No information
Asphyxiating Thoracic Dystrophy N/A N/A No information
Thoracic dysplasia -- hydrocephalus syndrome N/A N/A No information
Micromelic bone dysplasia with cloverleaf skull N/A N/A No information
Brachydactyly nystagmus cerebellar ataxia N/A N/A No information
Growth deficiency brachydactyly unusual facies N/A N/A No information
Polysyndactyly orofacial anomalies N/A N/A No information
Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly N/A N/A No information
Polydactyly postaxial dental and vertebral N/A N/A No information
Craniofrontonasal syndrome Teebi type N/A N/A No information
Microphthalmia, Lentz type N/A N/A No information
Microphthalmia N/A N/A No information
Microphthalmia, syndromic 1 N/A N/A No information
Microphthalmia -- camptodactyly -- mental retardation N/A N/A No information
Ptosis -- coloboma -- trigonocephaly N/A N/A No information
Microphthalmia associated with colobomatous cyst N/A N/A No information
Pericardium absent -- mental retardation -- short stature N/A N/A No information
Pulmonary arteriovenous malformation N/A N/A No information
Thyroid agenesis N/A N/A No information
Symphalangism -- brachydactyly -- craniosynostosis N/A N/A No information
Renal dysplasia, diffuse cystic N/A N/A No information
Ptosis -- coloboma -- mental retardation N/A N/A No information
Onychodystrophy and anonychia with type B brachydactyly and ectrodactyly N/A N/A No information
Hypoplastic right heart -- microcephaly N/A N/A No information
Microcephaly -- pontocerebellar hypoplasia -- dyskinesia N/A N/A No information
Pulmonary artery agenesis N/A N/A No information
Cerebral palsy, spastic, diplegic N/A N/A No information
Dandy Walker syndrome recessive form N/A N/A No information
Biliary atresia, intrahepatic, non syndromic form N/A N/A No information
Congenital cardiovascular malformations N/A N/A No information
Biliary atresia, intrahepatic, syndromic form N/A N/A No information
Down Syndrome approx 1 in 800 or 0.12% or 340,000 people in USA 340,000 1-in-800 overall births
Patau syndrome approx 1 in 5,000 or 0.02% or 54,400 people in USA 54,399 1-in-5000 approximately.
Cri-du-chat syndrome N/A N/A No information
Fragile-X Syndrome approx 1 in 3,000 or 0.03% or 90,666 people in USA 90,666 about 1 in 1500 males1.
Blepharoptosis -- aortic anomaly N/A N/A No information
Anotia -- facial palsy -- cardiac defect N/A N/A No information
Conotruncal heart malformations N/A N/A No information
Congenital pseudoarthrosis N/A N/A No information
Cholestasis -- pigmentary retinopathy -- cleft palate N/A N/A No information
Coloboma of macula N/A N/A No information
Edward Syndrome N/A N/A No information
Adrenal hyperplasia, congenital type 3 N/A N/A No information
Fibular dimelia -- diplopodia N/A N/A No information
Gingival fibromatosis, unusual facies, cafe-au-lait pigmentation and congenital skin telangiectases N/A N/A No information
Familial Tetralogy of Fallot and Glaucoma N/A N/A No information
Fetal akinesia syndrome, X-linked N/A N/A No information
Natal teeth, intestinal pseudoobstruction and patent ductus N/A N/A No information
Natal teeth intestinal pseudoobstruction patent ductus N/A N/A No information
Patent ductus arteriosus N/A N/A No information
Intrathoracic kidney -- vertebral fusion N/A N/A No information
Adducted thumb syndrome recessive form N/A N/A No information
Heterotaxia autosomal dominant type N/A N/A No information
Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia N/A N/A No information
Visceral neuropathy -- brain anomalies -- facial dysmorphism -- developmental delay N/A N/A No information
Agnathia-holoprosencephaly-situs inversus N/A N/A No information
Situs inversus viscerum-cardiopathy N/A N/A No information
Agnathia-microstomia-synotia N/A N/A No information
Kuster syndrome N/A N/A No information
Biemond syndrome type 1 N/A N/A No information
Biemond Syndrome N/A N/A No information
Biemond syndrome type 2 N/A N/A No information
Biemond syndrome type 3 N/A N/A No information
Glutaric aciduria type II N/A N/A No information
Hyperimidodipeptiduria N/A N/A No information
FG syndrome 1 N/A N/A No information
FG syndrome 2 N/A N/A No information
FG syndrome 3 N/A N/A No information
FG syndrome 4 N/A N/A No information
FG syndrome 5 N/A N/A No information
Congenital mitral malformation N/A N/A No information
Mitral atresia N/A N/A No information
Cerebellar agenesis N/A N/A No information
Simpson-Golabi-Behmel syndrome N/A N/A No information
Nevoid basal cell carcinoma syndrome N/A N/A No information
Pierre Robin's sequence N/A N/A No information
Pierre-Robin syndrome with fetal chondrodysplasia N/A N/A No information
Pierre Robin sequence -- congenital heart defect -- talipes N/A N/A No information
Pierre Robin sequence with pectus excavatum and rib and scapular anomalies N/A N/A No information
X-linked mental retardation craniofacial abnormal microcephaly club N/A N/A No information
Tricuspid atresia N/A N/A No information
Hypomyelination and congenital cataract N/A N/A No information
Unilateral pulmonary agenesis N/A N/A No information
Alacrimia, congenital N/A N/A No information
Classical Potter syndrome N/A N/A No information
Potter syndrome type 2 N/A N/A No information
Potter syndrome type 4 N/A N/A No information
Potter syndrome N/A N/A No information
Ectopia pupillae N/A N/A No information
Methylmalonic aciduria -- microcephaly -- cataract N/A N/A No information
Cystic adenomatoid malformation of lung N/A N/A No information
Cerebellar hypoplasia N/A N/A No information
Cerebellar hypoplasia -- tapetoretinal degeneration N/A N/A No information
Cerebellar vermis hypoplasia -- oligophrenia -- congenital ataxia -- coloboma -- hepatic fibrosis N/A N/A No information
Cerebral calcification cerebellar hypoplasia N/A N/A No information
Coloboma chorioretinal cerebellar vermis aplasia N/A N/A No information
Prosencephaly -- cerebellar dysgenesis N/A N/A No information
Porencephaly -- cerebellar hypoplasia -- malformations N/A N/A No information
Congenital adrenal hyperplasia -- simple virilizing form in females N/A N/A No information
Van Bogaert-Hozay syndrome N/A N/A No information
Macroglossia N/A N/A No information
Oto-spondylo-megaepiphyseal dysplasia, autosomal recessive N/A N/A No information
Oto-spondylo-megaepiphyseal dysplasia, homozygous N/A N/A No information
Metaphyseal dysplasia Pyle type N/A N/A No information
Otospondylomegaepiphyseal dysplasia N/A N/A No information
Spondyloepiphyseal dysplasia -- brachydactyly and distinctive speech N/A N/A No information
Adactylia unilateral N/A N/A No information
Coloboma porencephaly hydronephrosis N/A N/A No information
Coloboma of lens ala nasi N/A N/A No information
Oligomeganephronic renal hypoplasia N/A N/A No information
Hydronephrosis congenital N/A N/A No information
Multicystic renal dysplasia, bilateral N/A N/A No information
Coloboma of choroid and retina N/A N/A No information
Cleft palate, X-linked N/A N/A No information
Anorectal atresia N/A N/A No information
Renal dysplasia diffuse autosomal recessive N/A N/A No information
Multicystic Renal Dysplasia N/A N/A No information
Bilateral Renal Agenesis N/A N/A No information
Renal dysplasia -- limb defects syndrome N/A N/A No information
Renal adysplasia dominant type N/A N/A No information
Bilateral renal agenesis dominant type N/A N/A No information
Renal agenesis, bilateral N/A N/A No information
Simpson-Golabi-Behmel syndrome, type 2 N/A N/A No information
Simpson-Golabi-Behmel syndrome, type 1 (SGBS1) N/A N/A No information
Ectodermal dysplasia -- mental retardation -- central nervous system malformation N/A N/A No information
Developmental malformations -- deafness -- dystonia N/A N/A No information
Split-Hand/Foot Malformation with Long Bone Deficiency 3 N/A N/A No information
Split-Hand/Foot Malformation with Long Bone Deficiency 2 N/A N/A No information
Diarrhea 2, with Microvillous Atrophy N/A N/A No information
Diarrhea chronic with villous atrophy N/A N/A No information
Chondrodysplasia, type Nance-Sweeney N/A N/A No information
OSMED, Homozygous N/A N/A No information
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 N/A N/A No information
Vaginal atresia N/A N/A No information
Aphalangy -- hemivertebrae -- urogenital-intestinal dysgenesis N/A N/A No information
Richieri-Costa Pereira syndrome N/A N/A No information
Faciocardiomelic Syndrome N/A N/A No information
Endocrine-Cerebroosteodysplasia N/A N/A No information
Heterotopia, Periventricular, Associated with Chromosome 5q Deletion N/A N/A No information
Spondyloepimetaphyseal Dysplasia, Aggrecan Type N/A N/A No information
Cousin Walbrau Cegarra Syndrome N/A N/A No information
Peromelia N/A N/A No information
Jussieu syndrome N/A N/A No information
Megarbane-Jalkh Syndrome N/A N/A No information
Oromandibular and Limb Hypogenesis Syndrome, Type V N/A N/A No information
Dursun Syndrome N/A N/A No information
Microcephaly-Faciocardioskeletal syndrome N/A N/A No information
Zechi-Ceide Syndrome N/A N/A No information
Split-hand deformity N/A N/A No information
Split Hand/Split Foot Malformation N/A N/A No information
Gloomy syndrome N/A N/A No information
Gloomy face syndrome N/A N/A No information
Plasmalogenes synthesis deficiency isolated N/A N/A No information
Chondrodysplasia -- disorder of sex development N/A N/A No information
Piepkorn karp hickoc syndrome N/A N/A No information
Zunich-Kaye syndrome N/A N/A No information
Brachydactyly, absent pectoral muscles and agenesis/hypoplasia of kidneys N/A N/A No information
Blepharophimosis with ptosis, syndactyly, and short stature N/A N/A No information
Crumpled helices and small mouth N/A N/A No information
Hydrocephalus -- Skeletal Anomalies -- Mental Disturbance N/A N/A No information
Hydrocephalus skeletal anomalies N/A N/A No information
Morning Glory Fundus Anomaly -- Optic Nerve Coloboma -- Porencephaly -- Hydronephrosis N/A N/A No information
Barrow-Fitzsimmons Syndrome N/A N/A No information
Thumb deformity N/A N/A No information
Thomas Syndrome -- Potter Sequence with cleft lip/palate and cardiac anomalies N/A N/A No information
Pulmonary artery coming from the aorta N/A N/A No information
Esophageal atresia associated anomalies N/A N/A No information
Short stature deafness neutrophil dysfunction dysmorphism N/A N/A No information
Hemangioma, capillary infantile N/A N/A No information
Tetra-Amelia, Autosomal Recessive N/A N/A No information
Overgrowth radial ray defect arthrogryposis N/A N/A No information
Esophageal Atresia, Coloboma, Clubfoot N/A N/A No information
Right pulmonary artery, anomalous origin of, familial N/A N/A No information
Mastroiacovo de rosa satta syndrome N/A N/A No information
Congenital brain dysgenesis due to glutamine synthetase deficiency N/A N/A No information
Lop ears, Micrognathia and Conductive Hearing Loss N/A N/A No information
Split-Hand/Foot Malformation with Long Bone Deficiency 1 N/A N/A No information
Multiple Skeletal abnormalities with Anterior Segment Anomalies of the Eye and Early Lethality N/A N/A No information
Talonavicular coalition N/A N/A No information
Craniosynostosis cleft lip palate arthrogryposis N/A N/A No information
Lymphatic malformation (LM) N/A N/A No information
Microcephaly -- facial clefting -- preaxial polydactyly N/A N/A No information
Apelt-Gerkin-Lenz Syndrome N/A N/A No information
Colobomata unilobar lung heart defect N/A N/A No information
Abuelo Forman Rubin Syndrome N/A N/A No information
Familial Treacher Collins syndrome N/A N/A No information
Absent duct of Santorini N/A N/A No information
Dyssegmental dysplasia N/A N/A No information
Autosomal Recessive Tetra-Amelia N/A N/A No information
Tracheoesophageal fistula symphalangism N/A N/A No information
Collins-Dennis-Clarke-Pope Syndrome N/A N/A No information
Corpus callosum dysgenesis cleft spasm N/A N/A No information
Aksu von Stockhausen syndrome N/A N/A No information
Cataract skeletal anomalies N/A N/A No information
Pulmonary lymphangiectasia, congenital N/A N/A No information
Thrombocytopenia -- Multiple Congenital Anomalies N/A N/A No information
Multiple vertebral anomalies unusual facies N/A N/A No information
Lawrence-Seuo syndrome N/A N/A No information
Beradinelli-Seip congenital lipodystrophy N/A N/A No information
Glass-Chapman-Hockley syndrome N/A N/A No information
Glass chapman hockley syndrome de N/A N/A No information
Mirror polydactyly -- vertebral segmentation -- limbs defects N/A N/A No information
Ramos-Arroyo Syndrome N/A N/A No information
Humeroradial synostosis syndrome N/A N/A No information
Absent patella N/A N/A No information
Norman-Roberts lissencephaly syndrome N/A N/A No information
Lundberg I N/A N/A No information
Chondrodystrophia punctata, autosomal dominant N/A N/A No information
HARD syndrome (Hydrocephalus -- agyria -- retinal dysplasia) N/A N/A No information
Paraplegia -- brachydactyly -- cone-shaped epiphysis N/A N/A No information
Wolfram's disease N/A N/A No information
Hypoplasia of the tibia with polydactyly N/A N/A No information
Accessory pancreas N/A N/A No information
Segmental vertebral anomalies N/A N/A No information
Short stature, Brussels type N/A N/A No information
Peroxisomal Biogenesis Disorders N/A N/A No information
Peroxisome biogenesis disorders N/A N/A No information
Peroxisomal defects N/A N/A No information
Robinow Syndrome N/A N/A No information
Robinow syndrome, recessive form N/A N/A No information
Robinow syndrome, autosomal recessive N/A N/A No information
Robinow Sorauf syndrome N/A N/A No information
Robinow-like syndrome N/A N/A No information
Robinow-Unger syndrome N/A N/A No information
Alport syndrome -- mental retardation -- midface hypoplasia -- elliptocytosis N/A N/A No information
Alport Syndrome N/A N/A No information
Aplasia of lacrimal and salivary glands N/A N/A No information
Amelia, autosomal recessive N/A N/A No information
Anonychia onychodystrophy brachydactyly type b N/A N/A No information
Anonychia N/A N/A No information
Anonychia with flexural pigmentation N/A N/A No information
Anophthalmia cleft lip palate hypothalamic disorder N/A N/A No information
Anophthalmia/microphthalmia -- esophageal atresia N/A N/A No information
Anophthalmia -- Microphthalmia, isolated N/A N/A No information
Anophthalmia -- heart and pulmonary anomalies -- intellectual deficit N/A N/A No information
Double outlet -- right ventricle I N/A N/A No information
Double outlet right ventricle N/A N/A No information
Double outlet -- right ventricle II N/A N/A No information
Double outlet -- right ventricle IV N/A N/A No information
Double outlet -- left ventricle N/A N/A No information
Polydactyly postaxial N/A N/A No information
Oral-facial cleft N/A N/A No information
Polydactyly, postaxial -- dental and vertebral anomalies N/A N/A No information
Polydactyly alopecia seborrheic dermatitis N/A N/A No information
Polydactyly preaxial type 1 N/A N/A No information
Polydactyly, preaxial IV N/A N/A No information
Supernumerary nipples N/A N/A No information
Polydactyly cleft lip palate psychomotor retardation N/A N/A No information
Syndactyly -- preaxial polydactyly -- sternal deformity N/A N/A No information
Brain malformation -- congenital heart disease -- postaxial polydactyly N/A N/A No information
Hypopituitarism postaxial polydactyly N/A N/A No information
Short rib-polydactyly syndrome, Majewski type N/A N/A No information
Short rib-polydactyly syndrome, Saldino-Noonan type N/A N/A No information
Ulnar hypoplasia lobster claw deformity of feet N/A N/A No information
Short rib -- polydactyly syndrome N/A N/A No information
Ectodermal dysplasia -- alopecia -- preaxial polydactyly N/A N/A No information
Scalp defects -- postaxial polydactyly N/A N/A No information
Mirror polydactyly -- segmentation and limbs defects N/A N/A No information
Syndactyly -- polydactyly -- ear lobe syndrome N/A N/A No information
Crossed polydactyly type 1 N/A N/A No information
Anonychia -- ectrodactyly N/A N/A No information
Larynx atresia N/A N/A No information
Thumb absence -- hypoplastic halluces N/A N/A No information
Tibia absent -- polydactyly -- arachnoid cyst N/A N/A No information
Ectrodactyly -- polydactyly N/A N/A No information
Cortical blindness -- mental retardation -- polydactyly N/A N/A No information
Crossed polysyndactyly N/A N/A No information
Rigid mask-like face -- deafness -- polydactyly N/A N/A No information
Pierre Robin syndrome skeletal dysplasia polydactyly N/A N/A No information
Maxillary double lip N/A N/A No information
Trigonomacrocephaly -- tibial defect -- polydactyly N/A N/A No information
Hypothyroidism postaxial polydactyly mental retardation N/A N/A No information
Cleft palate -- heart disease -- polydactyly -- absent tibia N/A N/A No information
Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia N/A N/A No information
Megalencephaly -- polymicrogyria -- post-axial polydactyly -- hydrocephalus N/A N/A No information
Mullerian derivatives -- lymphangiectasia -- polydactyly N/A N/A No information
Urophathy distal obstructive polydactyly N/A N/A No information
Phocomelia ectrodactyly deafness sinus arrhythmia N/A N/A No information
Polysyndactyly overgrowth syndrome N/A N/A No information
Phocomelia ectrodactyly ear malformation deafness sinus arrhythmia N/A N/A No information
Cephalopolysyndactyly N/A N/A No information
Limb deficiencies distal micrognathia N/A N/A No information
Greig Cephalopolysyndactyly Syndrome N/A N/A No information
Short ribs -- craniosynostosis -- polysyndactyly N/A N/A No information
Triphalangeal thumb -- polysyndactyly syndrome N/A N/A No information
Fibula aplasia complex -- brachydactyly N/A N/A No information
Polysyndactyly -- cardiac malformation N/A N/A No information
Craniofacial and skeletal defects N/A N/A No information
Heart defect, tongue hamartoma and polysyndactyly N/A N/A No information
Polysyndactyly type Haas N/A N/A No information
Polysyndactyly -- trigonocephaly -- agenesis of corpus callosum N/A N/A No information
Corpus callosum agenesis -- polysyndactyly N/A N/A No information
Phocomelia -- thrombocytopenia -- encephalocele -- urogenital malformation N/A N/A No information
Roberts-SC Phocomelia N/A N/A No information
Phocomelia syndrome N/A N/A No information
Ectrodactyly N/A N/A No information
Frontonasal dysplasia -- phocomelic upper limbs N/A N/A No information
Phocomelia -- contractures -- absent thumb N/A N/A No information
Dentin dysplasia -- sclerotic bones N/A N/A No information
Ectrodactyly, recessive form N/A N/A No information
Ectrodactyly cleft palate syndrome N/A N/A No information
Micrencephaly corpus callosum agenesis N/A N/A No information
Tibial aplasia ectrodactyly N/A N/A No information
Ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate N/A N/A No information
Ectrodactyly dominant form N/A N/A No information
Femur bifid with monodactylous ectrodactyly N/A N/A No information
Oculo-cerebro-acral, (Roberts-like)-ectrodactyly N/A N/A No information
Cleft lip -- palate -- ectrodactyly N/A N/A No information
Cleft lip -- palate -- abnormal thumbs -- microcephaly N/A N/A No information
Craniosynostosis -- fibular aplasia N/A N/A No information
Congenital microgastria limb reduction defect N/A N/A No information
Splenogonadal fusion, limb defects, micrognathia N/A N/A No information
Acro-pectoro-renal field defect N/A N/A No information
Neural tube defects X-linked N/A N/A No information
Mesodermal defects lower type N/A N/A No information
Microsomia -- hemifacial -- radial defects N/A N/A No information
Radial defect -- Robin sequence N/A N/A No information
Limb reduction defect N/A N/A No information
Limb transversal defect -- cardiac anomaly N/A N/A No information
Eye defects -- arachnodactyly -- cardiopathy N/A N/A No information
Laterality defects dominant N/A N/A No information
Neural tube defect, folate-sensitive N/A N/A No information
Neonatal ovarian cyst N/A N/A No information
Craniosynostosis -- alopecia -- brain defect N/A N/A No information
Immotile cilia syndrome, due to defective radial spokes N/A N/A No information
Midline field defects N/A N/A No information
Pulmonary atresia with ventricular septal defect N/A N/A No information
Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss N/A N/A No information
Cardiac and laterality defects N/A N/A No information
Lung herniation -- congenital defect of sternum N/A N/A No information
Aortic arches defect N/A N/A No information
Larynx, congenital partial atresia of N/A N/A No information
Short stature -- pituitary and cerebellar defects -- small sella turcica N/A N/A No information
Upper limb defect eye and ear abnormalities N/A N/A No information
Arterial occlusive disease, progressive -- hypertension -- heart defects -- bone fragility -- brachysyndactyly N/A N/A No information
Immune defect due to absence of thymus N/A N/A No information
Umbilical cord ulceration and intestinal atresia N/A N/A No information
Tracheoesophageal fistula without esophageal atresia N/A N/A No information
Duodenal atresia N/A N/A No information
Colonic atresia N/A N/A No information
Asternia N/A N/A No information
Pulmonary atresia -- intact ventricular septum N/A N/A No information
Spondylocostal dysostosis with anal atresia and urogenital anomalies N/A N/A No information
Arhinia-choanal atresia-microphthalmia syndrome N/A N/A No information
Atresia of small intestine N/A N/A No information
Familial intestinal polyatresia syndrome N/A N/A No information
Microtia, meatal atresia and conductive deafness N/A N/A No information
Coronal synostosis, syndactyly and jejunal atresia N/A N/A No information
Cervical ribs, sprengel anomaly, anal atresia, urethral obstruction N/A N/A No information
Duodenal atresia tetralogy of Fallot N/A N/A No information
Duodenojejunal atresia with volvulus, absent dorsal mesentery and absent superior mesenteric artery N/A N/A No information
Congenital absence of the sternocleidomastoid muscle N/A N/A No information
Jejunal atresia with renal adysplasia N/A N/A No information
Choanal atresia -- deafness -- cardiac defects -- dysmorphia N/A N/A No information
Atresia of urethra N/A N/A No information
Solitary maxillary central incisor, short stature, and choanal atresia N/A N/A No information
Esophageal Atresia and/or Tracheoesophageal Fistula N/A N/A No information
Arhinia, choanal atresia, and microphthalmia N/A N/A No information
Jejunal Atresia N/A N/A No information
Blepharoptosis -- cleft palate -- ectrodactyly -- dental anomalies N/A N/A No information
Ectodermal dysplasia -- ectrodactyly -- macular dystrophy N/A N/A No information
Fibular aplasia -- ectrodactyly N/A N/A No information
Ectrodactyly -- cardiopathy -- dysmorphism N/A N/A No information
Short stature -- monodactylous -- ectrodactyly -- cleft palate N/A N/A No information
Cleft palate -- cardiac defect -- genital anomalies -- ectrodactyly N/A N/A No information
Arterial calcification of infancy N/A N/A No information
Dextrocardia N/A N/A No information
Familial porencephaly N/A N/A No information
Holoprosencephaly -- ectrodactyly -- cleft lip/palate N/A N/A No information
Hydrops ectrodactyly syndactyly N/A N/A No information
Ectrodactyly ectrodermal dysplasia N/A N/A No information
Anophthalmia -- hypothalamo-pituitary insufficiency N/A N/A No information
Anophthalmia plus syndrome N/A N/A No information
Anophthalmia with pulmonary hypoplasia N/A N/A No information
Anophthalmia -- short stature -- obesity N/A N/A No information
Anophthalmia -- cleft palate -- micrognathia N/A N/A No information
Anophthalmia -- hypyothalamo-pituitary insufficiency N/A N/A No information
Anophthalmia -- hand and foot defects -- mental retardation N/A N/A No information
Anophthalmia -- microcephaly -- hypogonadism N/A N/A No information
Duplication of urethra N/A N/A No information
Short limbs subluxed knees cleft palate N/A N/A No information
Cardiac malformation, cleft lip-palate, microcephaly and digital anomalies N/A N/A No information
Cleft palate, bilateral choanal atresia, curly hair and congenital hypothyroidism N/A N/A No information
Familial patella aplasia-hypoplasia N/A N/A No information
Hypothyroidism -- dermoid cyst -- cleft palate N/A N/A No information
Growth delay -- mental retardation -- mandibulofacial dysostosis -- microcephaly -- cleft palate N/A N/A No information
Coloboma uveal with cleft lip palate and mental retardation N/A N/A No information
Hypergonadotropic ovarian failure N/A N/A No information
Hypothyroidism -- cleft palate N/A N/A No information
Dextrocardia -- microphthalmia -- cleft palate -- intellectual deficit N/A N/A No information
Craniosynostosis arthrogryposis cleft palate N/A N/A No information
Cleft lower lip cleft lateral canthi chorioretinal N/A N/A No information
Cleft palate -- coloboma -- deafness N/A N/A No information
Laryngeal cleft N/A N/A No information
Malpuech facial clefting syndrome N/A N/A No information
Palant cleft palate syndrome N/A N/A No information
Cleft lip and palate -- malrotation -- cardiopathy N/A N/A No information
Cleft lip palate -- deafness -- sacral lipoma N/A N/A No information
Midline cleft of lower lip N/A N/A No information
Ankyloblepharon filiforme adnatum -- cleft palate N/A N/A No information
Cystic hygroma, lethal -- cleft palate N/A N/A No information
Dysraphism -- cleft lip palate -- limb reduction defects N/A N/A No information
Coloboma, cleft lip/palate and mental retardation syndrome N/A N/A No information
Microbrachycephaly -- ptosis -- cleft lip N/A N/A No information
EEC syndrome without cleft lip/palate N/A N/A No information
Multiple congenital anomalies -- mental retardation -- growth failure and cleft lip/ palate N/A N/A No information
Leg absence -- deformity -- cataract N/A N/A No information
Syngnathia -- cleft palate N/A N/A No information
Clefting -- ectropion -- conical teeth N/A N/A No information
Ectodermic dysplasia -- anhidrotic -- cleft lip N/A N/A No information
Contractures -- ectodermal dysplasia -- cleft lip palate N/A N/A No information
Dysmorphism -- cleft palate -- loose skin N/A N/A No information
Hypopituitarism -- micropenis -- cleft lip palate N/A N/A No information
Meningeal angiomatosis -- cleft hypoplastic left heart N/A N/A No information
Pachygyria, frontotemporal N/A N/A No information
Tibial hemimelia -- cleft lip/palate N/A N/A No information
Microcephaly, corpus callosum dysgenesis and cleft lip-palate N/A N/A No information
Sternal cleft N/A N/A No information
Cleft lip palate pituitary deficiency N/A N/A No information
Cleft upper lip, median -- cutaneous polyps N/A N/A No information
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome N/A N/A No information
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome, type 1 N/A N/A No information
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome, type 2 N/A N/A No information
Choanal atresia -- deafness -- cardiac defects -- dysmorphism N/A N/A No information
Ventriculo-arterial discordance, isolated N/A N/A No information
Vascular malposition N/A N/A No information
Corpus callosum agenesis-neuropathy N/A N/A No information
Congenital bilateral absence of vas deferens N/A N/A No information
Ellis-van Creveld syndrome N/A N/A No information
Chondroectodermal dysplasia N/A N/A No information
Caudal dysplasia sequence N/A N/A No information
Caudal regression syndrome N/A N/A No information
Holoprosencephaly -- caudal dysgenesis N/A N/A No information
Caudal appendage -- deafness N/A N/A No information
Caudal duplication N/A N/A No information
Facies unusual arthrogryposis advanced skeletal malformations N/A N/A No information
Kaufman oculocerebrofacial syndrome N/A N/A No information
Craniosynostosis, anal anomalies, and porokeratosis N/A N/A No information
Acromelanosis N/A N/A No information
Acrorenal syndrome N/A N/A No information
Spondylocarpotarsal synostosis N/A N/A No information
Camptodactyly -- fibrous tissue hyperplasia -- skeletal dysplasia N/A N/A No information
MRKH syndrome N/A N/A No information
Diaphanospondylodysostosis N/A N/A No information
Arachnodactyly -- Intellectual Deficit -- Dysmorphism N/A N/A No information
Al Awadi-Raas-Rothschild syndrome N/A N/A No information
Absent corpus callosum -- cataract -- immunodeficiency N/A N/A No information
Absent patellae -- scrotal hypoplasia -- renal anomalies -- facial dysmorphism -- mental retardation N/A N/A No information
Achondrogenesis type 1A N/A N/A No information
Achondrogenesis type 2 N/A N/A No information
Achondrogenesis, Langer-Saldino Type N/A N/A No information
Achondrogenesis type 1B N/A N/A No information
Congenital bilateral aplasia of vas deferens N/A N/A No information
Achondrogenesis type 1A and 1B N/A N/A No information
Type II Achondrogenesis-Hypochondrogenesis N/A N/A No information
Atelosteogenesis, type 1 N/A N/A No information
Atelosteogenesis Type III N/A N/A No information
Atelosteogenesis, type 2 N/A N/A No information
Achondrogenesis N/A N/A No information
Pyknoachondrogenesis N/A N/A No information
Achondrogenesis, type 3 N/A N/A No information
Achondrogenesis, type 4 N/A N/A No information
Aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits and nails N/A N/A No information
Anal sphincter dysplasia N/A N/A No information
Congenital unilateral pulmonary hypoplasia N/A N/A No information
Camptodactyly syndrome, Guadalajara type 1 N/A N/A No information
Cardiac diverticulum N/A N/A No information
Goodman camptodactyly N/A N/A No information
Spondylo camptodactyly syndrome N/A N/A No information
Tel-Hashomer camptodactyly syndrome N/A N/A No information
Syncamptodactyly -- scoliosis N/A N/A No information
Camptodactyly syndrome, Guadalajara type 2 N/A N/A No information
Camptodactyly syndrome, Guadalajara type III N/A N/A No information
Camptodactyly syndrome, Guadalajara type 3 N/A N/A No information
Camptodactyly -- vertebral fusion N/A N/A No information
Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia N/A N/A No information
Coloboma of optic nerve N/A N/A No information
Digestive duplication N/A N/A No information
Aplasia cutis congenita dominant N/A N/A No information
Contractures, congenital, torticollis and malignant hyperthermia N/A N/A No information
Metacarpals 4 and 5 fusion N/A N/A No information
Thrombocytopenia -- cerebellar hypoplasia -- short stature N/A N/A No information
Radius absent -- anogenital anomalies N/A N/A No information
Craniofaciocardioskeletal syndrome N/A N/A No information
Polymicrogyria -- turricephaly -- hypogenitalism N/A N/A No information
Distichiasis -- heart and vasculature anomalies N/A N/A No information
Hanhart syndrome type II N/A N/A No information
Hanhart syndrome type IV N/A N/A No information
Hanhart Syndrome N/A N/A No information
Hanhart syndrome type III N/A N/A No information
Hanhart syndrome type I N/A N/A No information
Coffin-Lowry syndrome N/A N/A No information
Joubert Syndrome N/A N/A No information
Bicuspid aortic valve N/A N/A No information
Larsen syndrome, dominant type N/A N/A No information
Larsen-like osseous dysplasia -- dwarfism N/A N/A No information
Larsen syndrome N/A N/A No information
Larsen syndrome, recessive type N/A N/A No information
Pterygium syndrome multiple dominant type N/A N/A No information
Pterygium syndrome, antecubital N/A N/A No information
Pterygium colli -- mental retardation -- digital anomalies N/A N/A No information
FG Syndrome N/A N/A No information
Scott Craniodigital Syndrome N/A N/A No information
Filippi Syndrome N/A N/A No information
Fraser Syndrome N/A N/A No information
Shwachman-Diamond Syndrome N/A N/A No information
Pierre Robin Sequence N/A N/A No information
Fountain Syndrome N/A N/A No information
Velopharyngeal insufficiency N/A N/A No information
Cat's cry N/A N/A No information
Brachmann-De Lange Syndrome N/A N/A No information
Athyrotic hypothyroidism sequence N/A N/A No information
Multiple pterygium syndrome N/A N/A No information
Aphakia, congenital primary N/A N/A No information
Acromesomelic dysplasia N/A N/A No information
Langer mesomelic dysplasia N/A N/A No information
HARD syndrome N/A N/A No information
Kabuki syndrome N/A N/A No information
Seckle syndrome N/A N/A No information
German syndrome N/A N/A No information
VATER association N/A N/A No information
Multiple pterygium syndrome lethal type N/A N/A No information
Whelan syndrome N/A N/A No information
Miller-Dieker syndrome N/A N/A No information
Cloacal exstrophy N/A N/A No information
Varadi Papp syndrome N/A N/A No information
Mohr syndrome N/A N/A No information
Leri-Weil syndrome N/A N/A No information
Craniofrontonasal dysplasia N/A N/A No information
Conradi-Hunermann syndrome N/A N/A No information
Patella aplasia, coxa vara, tarsal synostosis N/A N/A No information
Acalvaria N/A N/A No information
Aglossia and situs inversus N/A N/A No information
Amastia N/A N/A No information
Truncus Arteriosus N/A N/A No information
Persistent Truncus Arteriosus N/A N/A No information
Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism N/A N/A No information
Spondylometaphyseal dysplasia, X-linked N/A N/A No information
VACTERL hydrocephaly N/A N/A No information
Stickler's syndrome N/A N/A No information
Stickler Syndrome N/A N/A No information
Stickler Syndrome, type II N/A N/A No information
Stickler Syndrome, type III N/A N/A No information
Stickler Syndrome, type I N/A N/A No information
Anotia N/A N/A No information
Thanatophoric dysplasia, type 2 N/A N/A No information
Thanatophoric dysplasia, type 1 N/A N/A No information
Francois dyscephalic syndrome N/A N/A No information
Multiple synostosis syndrome N/A N/A No information
Mullerian aplasia N/A N/A No information
Congenital megalo-ureter N/A N/A No information
Craniomicromelic syndrome N/A N/A No information
Digitorenocerebral syndrome N/A N/A No information
Craniofaciocervical osteoglyphic dysplasia N/A N/A No information
Rudd-Klimek syndrome N/A N/A No information
Thymic-Renal-Anal-Lung dysplasia N/A N/A No information
Nova syndrome N/A N/A No information
Scalp -- ear -- nipple syndrome N/A N/A No information
Meckel syndrome type 2 N/A N/A No information
Nephrosis -- deafness -- urinary tract -- digital malformation N/A N/A No information
Microcephaly -- oculo-digito-esophageal-duodenal syndrome (MODED) N/A N/A No information
Meckel Syndrome N/A N/A No information
Meckel syndrome type 3 N/A N/A No information
Meckel syndrome, type 5 N/A N/A No information
Popliteal pterygium syndrome, lethal type N/A N/A No information
Pterygium, Popliteal, lethal type N/A N/A No information
Spondylohypoplasia, arthrogryposis and popliteal pterygium N/A N/A No information
Thrombocytopathy -- asplenia -- miosis N/A N/A No information
Arachnodactyly -- mental retardation -- dysmorphism N/A N/A No information
Familial nasal acilia N/A N/A No information
Anonychia -- microcephaly N/A N/A No information
Internal carotid agenesis N/A N/A No information
Congenital bronchobiliary fistula N/A N/A No information
Skeletal dysplasia, San Diego type N/A N/A No information
Tabatznik syndrome N/A N/A No information
Pelvic-shoulder dysplasia N/A N/A No information
Femur-fibula-ulna syndrome N/A N/A No information
Cerebro oculo genital syndrome N/A N/A No information
Tarsal carpal coalition syndrome N/A N/A No information
Gingival fibromatosis -- facial dysmorphism N/A N/A No information
Microcornea -- glaucoma -- absent frontal sinuses N/A N/A No information
Radio-ulnar synostosis type 2 N/A N/A No information
Spondylocostal dysostosis, autosomal recessive N/A N/A No information
Colobomatous microphthalmia -- heart disease -- hearing loss N/A N/A No information
Ankyloblepharon filiforme -- imperforate anus N/A N/A No information
Glossopalatine ankylosis -- micrognathia -- ear anomalies N/A N/A No information
Haspeslagh Fryns Muelenaere syndrome N/A N/A No information
Kousseff-Nichols syndrome N/A N/A No information
Pilotto syndrome N/A N/A No information
Aniridia -- renal agenesis -- psychomotor retardation N/A N/A No information
Congenital cystic eye, multiple ocular and intracranial anomalies N/A N/A No information
Otoonychoperoneal syndrome N/A N/A No information
Spondylocostal dysplasia dominant N/A N/A No information
Thoracopelvic dysostosis N/A N/A No information
Hemimegalencephaly N/A N/A No information
Meningoencephalocele N/A N/A No information
Thumb absent -- short stature -- immune deficiency N/A N/A No information
Pterigium Colli N/A N/A No information
Humerus, trochlea, aplasia of N/A N/A No information
Partial atrioventricular canal N/A N/A No information
Multifocal heterotopia N/A N/A No information
Subcortical laminar heterotopia N/A N/A No information
Marginal glioneuronal heterotopia N/A N/A No information
Periventricular laminar heterotopia N/A N/A No information
Heterotopia, periventricular, autosomal recessive N/A N/A No information
Hereditary nodular heterotopia N/A N/A No information
Subependymal nodular heterotopia N/A N/A No information
Familial band heterotopia N/A N/A No information
Coloboma of optic papilla N/A N/A No information
Coloboma of iris N/A N/A No information
Coloboma of Alar-nasal cartilages with telecanthus N/A N/A No information
Microtia with nasolacrimal duct imperforation and eye coloboma N/A N/A No information
Infantile idiopathic hypercalciuria, congenital myopia, macular coloboma N/A N/A No information
Hypercalciuria macular coloboma N/A N/A No information
Iris coloboma, macrocephaly, agenesis of the corpus callosum, brachydactyly and mental retardation N/A N/A No information
Agenesis of the corpus callosum -- mental retardation -- coloboma -- micrognathia N/A N/A No information
Alar cartilages hypoplasia -- coloboma -- telecanthus N/A N/A No information
Nasopalpebral lipoma -- coloboma syndrome N/A N/A No information
Coloboma of macula, type B brachydactyly N/A N/A No information
Trigonocephaly -- ptosis -- coloboma N/A N/A No information
Cerebellum agenesis -- hydrocephaly N/A N/A No information
Platyspondylic lethal chondrodysplasia N/A N/A No information
Transposition of great arteries N/A N/A No information
Kidney arteriovenous fistula N/A N/A No information
Unusual facies, skeletal abnormalities, communicating hydrocephalus N/A N/A No information
Unusual facies, renal and Mullerian hypoplasia and severe somatic and mental retardation N/A N/A No information
Infundibulopelvic stenosis multicystic kidney N/A N/A No information
Long thumb brachydactyly, maxillary hypoplasia, mental retardation and unusual facies N/A N/A No information
Unusual facies, preauricular pits, fifth finger clinodactyly and tetralogy of Fallot N/A N/A No information
Corpus callosum agenesis -- blepharophimosis -- Robin sequence N/A N/A No information
Platyspondylic lethal skeletal dysplasia, Torrance type N/A N/A No information
Exencephaly N/A N/A No information
Acropectoral syndrome N/A N/A No information
Acrodysplasia scoliosis N/A N/A No information
Acromicric dysplasia N/A N/A No information
Acropectorovertebral dysplasia N/A N/A No information
$3C syndrome$ N/A N/A No information
Acromesomelic dysplasia, Maroteaux type N/A N/A No information
Amelo-onycho-hypohidrotic syndrome N/A N/A No information
Alves Castelo dos Santos syndrome N/A N/A No information
Piebaldism N/A N/A No information
Diphallia N/A N/A No information
Maxillo-nasal dysostosis N/A N/A No information
Shprintzen-Golberg craniosynostosis N/A N/A No information
Shprintzen-Goldberg syndrome N/A N/A No information
Opitz syndrome , X-linked N/A N/A No information
Microcephaly brachydactyly kyphoscoliosis N/A N/A No information
Short stature webbed neck heart disease N/A N/A No information
Tetramelic deficiencies -- Ectodermal dysplasia -- deformed ears -- other abnormalities N/A N/A No information
Ulna hypoplasia with mental retardation N/A N/A No information
Blepharophimosis ptosis esotropia syndactyly short N/A N/A No information
Fibular hypoplasia or aplasia -- femoral bowing -- oligodactyly N/A N/A No information
Fuhrmann-Rieger-de Sousa syndrome N/A N/A No information
Corpus callosum dysgenesis hypopituitarism N/A N/A No information
Rieger anomaly -- partial lipodystrophy N/A N/A No information
SHORT Syndrome N/A N/A No information
Theodor-Hertz-Goodman syndrome N/A N/A No information
Ankylosis -- facial anomalies -- pulmonary hypoplasia syndrome N/A N/A No information
Congenital arteriovenous shunt N/A N/A No information
Cardiac malformation N/A N/A No information
Agyria-pachygyria type 1 N/A N/A No information
Armendares syndrome N/A N/A No information
Limb-mammary syndrome N/A N/A No information
Hypomyelination -- congenital cataract N/A N/A No information
Nasal hypoplasia, sparse hair, truncal obesity, genital hypoplasia and severe mental retardation N/A N/A No information
Robin sequence oligodactyly N/A N/A No information
Clavicle, pseudoarthrosis of, congenital N/A N/A No information
Hunter-MacDonald syndrome N/A N/A No information
Female pseudohermaphrodism -- anorectal anomalies N/A N/A No information
Female pseudohermaphrodism N/A N/A No information
Chondrodysplasia punctata lethal neonatal N/A N/A No information
Multiple pterygium syndrome, autosomal recessive N/A N/A No information
Facio-cardio-musculo-skeletal syndrome N/A N/A No information
Oto-facio-osseous-gonadal syndrome N/A N/A No information
Dauwerse-Peters syndrome N/A N/A No information
Growth retardation mental retardation phalangeal hypoplasia N/A N/A No information
Multiple endocrine abnormalities -- adenylyl cyclase dysfunction N/A N/A No information
Female sex reversal with dysgenesis of kidneys, adrenals and lungs N/A N/A No information
Macrocephaly, facial abnormalities, disproportionate tall stature and mental retardation N/A N/A No information
Agenesis of salivary glands and lacrimal glands N/A N/A No information
Melanosis diffusa congenita N/A N/A No information
Krieble Bixler syndrome N/A N/A No information
Blepharophimosis, large cylindrical nose and severe intrauterine growth retardation N/A N/A No information
Midline craniofacial anomalies and morning glory disc anomaly N/A N/A No information
Mesomelic dysplasia, Camera type N/A N/A No information
Microcephalic osteodysplastic dysplasia, Saul-Wilson type N/A N/A No information
Rhombencephalosynapsis N/A N/A No information
Mesomelia radial hypoplasia bifid thumb unusual facies N/A N/A No information
Mungan syndrome N/A N/A No information
Iridogoniodysgenesis and skeletal anomalies N/A N/A No information
Tracheal stenosis syndrome N/A N/A No information
Foramina parietalia permagna N/A N/A No information
Brachydactyly, mesomelia, mental retardation, aortic dilation, mitral valve prolapse and characteristic face N/A N/A No information
Craniorachischisis N/A N/A No information
Houlston ironton temple syndrome de N/A N/A No information
Rokitansky-Kuster-Hauser syndrome N/A N/A No information
Rokitansky sequence N/A N/A No information
Mayer-Rokitansky-Kuster-Hauser, syndrome, type 2 (MRKH type 2) N/A N/A No information
Koussef nichols syndrome N/A N/A No information
Ectodermal dysplasia, hypohidrotic, autosomal dominant N/A N/A No information
Ear, patella, short stature syndrome N/A N/A No information
Stevenson-Carey syndrome N/A N/A No information
Toe syndactyly, telecanthus, and anogenital and renal malformations N/A N/A No information
Lymphoedema -- cerebral arteriovenous anomaly N/A N/A No information
Lumbar malsegmentation, short stature and facial anomalies N/A N/A No information
Lethal congenital contracture syndrome (LCCS) N/A N/A No information
Unusual facies, hypotonia, mental retardation and radioulnar synostosis N/A N/A No information
Double nails on the fifth toe N/A N/A No information
Bruck syndrome 1 N/A N/A No information
Bruck syndrome, 2 N/A N/A No information
Craniofacial -- deafness -- hand syndrome N/A N/A No information
Radio digito -- facial dysplasia N/A N/A No information
Arrhinia N/A N/A No information
Shy-Drager Syndrome N/A N/A No information
Sturge-Weber Syndrome N/A N/A No information
Williams Syndrome N/A N/A No information
Tracheal agenesis syndrome N/A N/A No information
Clubfoot approx 1 in 68,000 or 0.00% or 4,000 people in USA 4,000 about 1 per 1,000 births2.
Congenital bronchogenic cyst N/A N/A No information
Apert syndrome N/A N/A No information
Intersex conditions N/A N/A No information
Patent foramen ovale N/A N/A No information
Neu-Laxova Syndrome N/A N/A No information
Ivemark Syndrome N/A N/A No information
Walker-Warburg Syndrome N/A N/A No information
Oculo-osteo-cutaneous syndrome N/A N/A No information
Oculo-oto-facial dysplasia N/A N/A No information
Osteopaenia -- myopia -- hearing loss -- intellectual deficit -- facial dysmorphism N/A N/A No information
Retinitis pigmentosa deafness hypogenitalism N/A N/A No information
Isthmus coarctation N/A N/A No information
Nail-Patella Syndrome N/A N/A No information
Bowen-Conradi Syndrome N/A N/A No information
Cor Triatriatum N/A N/A No information
Pentalogy of Cantrell N/A N/A No information
Weaver Syndrome N/A N/A No information
Smith-Magenis Syndrome N/A N/A No information
Wolf-Hirschhorn Syndrome N/A N/A No information
Simpson Dysmorphia Syndrome N/A N/A No information
Townes-Brocks Syndrome N/A N/A No information
Brailsford N/A N/A No information
Brachymesophalangy 2 and 5 N/A N/A No information
Brachymesomelia-renal syndrome N/A N/A No information
Cerebrorenodigital syndrome N/A N/A No information
Bentham-Driessen-Hanveld syndrome N/A N/A No information
$3-M Syndrome$ N/A N/A No information
Hay-Wells Syndrome N/A N/A No information
Hay-Wells syndrome, recessive type N/A N/A No information
Cutis Marmorata Telangiectatica Congenita N/A N/A No information
Cat Eye Syndrome N/A N/A No information
Situs Inversus N/A N/A No information
MURCS Association N/A N/A No information
Aase syndrome 2 N/A N/A No information
Acardia N/A N/A No information
Aase Smith syndrome N/A N/A No information
Aase-Smith I syndrome N/A N/A No information
Mulibrey Nanism syndrome N/A N/A No information
Aarskog Syndrome N/A N/A No information
Schinzel Giedion Syndrome N/A N/A No information
Antley-Bixler Syndrome N/A N/A No information
Treacher-Collins Syndrome N/A N/A No information
Anorectal Malformations N/A N/A No information
Acrocallosal Syndrome (Schinzel Type) N/A N/A No information
Bloom Syndrome N/A N/A No information
Baller-Gerold Syndrome N/A N/A No information
Aase Syndrome N/A N/A No information
Cardiofaciocutaneous Syndrome N/A N/A No information
CHARGE Syndrome N/A N/A No information
Catel-Manzke Syndrome N/A N/A No information
Nager Syndrome N/A N/A No information
MULIBREY Nanism N/A N/A No information
Gorlin-Chaudhry-Moss Syndrome N/A N/A No information
Gastroschisis N/A N/A No information
Pallister-Hall Syndrome N/A N/A No information
KBG Syndrome N/A N/A No information
Johanson-Blizzard Syndrome N/A N/A No information
Laurence-Moon Syndrome N/A N/A No information
Jarcho-Levin Syndrome N/A N/A No information
Leri Pleonosteosis N/A N/A No information
Schinzel Syndrome N/A N/A No information
Roberts Pseudothalidomide Syndrome N/A N/A No information
C-like syndrome N/A N/A No information
Conradi-Huenermann Syndrome N/A N/A No information
Acrosphenosyndactylia N/A N/A No information
Mullerian Aplasia -- Renal Aplasia -- Cervicothoracic Somite Dysplasia N/A N/A No information
Kunze riehm syndrome N/A N/A No information
Michelin Tire Baby Syndrome N/A N/A No information
Michelin tyre baby syndrome N/A N/A No information
Jequier-Kozlowski-skeletal dysplasia N/A N/A No information
Osteodysplasty, precocious, of Danks, Mayne, and Kozlowski N/A N/A No information
Chondrodysplasia, acromesomelic, with genital anomalies N/A N/A No information
Lethal chondrodysplasia, Seller type N/A N/A No information
Hypertrichotic osteochondrodysplasia N/A N/A No information
Chondrodysplasia, Grebe type N/A N/A No information
Jansen type metaphyseal chondrodysplasia N/A N/A No information
Aniridia -- ptosis -- mental retardation -- obesity, familial N/A N/A No information
Franceschetti-Klein syndrome N/A N/A No information
Kennerknecht syndrome N/A N/A No information
Finlay-Markes syndrome N/A N/A No information
Eyebrow Duplication -- Stretchable Skin -- Syndactyly N/A N/A No information
Cantu syndrome N/A N/A No information
Brachio-Skeletal-Genital Syndrome N/A N/A No information
Hing Torack Dowston syndrome N/A N/A No information
Aniridia ataxia renal agenesis psychomotor retardation N/A N/A No information
Braddock Jones Superneau syndrome N/A N/A No information
Cantu Sanchez-Corona Garcia-cruz syndrome N/A N/A No information
Stuve-Wiedemann syndrome N/A N/A No information
Stuve-Wiedemann dysplasia N/A N/A No information
Moebius sequence N/A N/A No information
Moebius syndrome 1 N/A N/A No information
Cornel syndrome N/A N/A No information
Koroxenidis Syndrome N/A N/A No information
Camera Costa Syndrome N/A N/A No information
Moebius Syndrome N/A N/A No information
Cranio-facio-digito-genital syndrome N/A N/A No information
Stoll Levy Francort Syndrome N/A N/A No information
Freire-Maia syndrome N/A N/A No information
BBB syndrome, X-linked N/A N/A No information
Kozlowski Celermajer Tink syndrome N/A N/A No information
Ptosis strabismus diastasis N/A N/A No information
Edwards-Gale Syndrome N/A N/A No information
Brosnan Syndrome N/A N/A No information
Acrocallosal syndrome N/A N/A No information
Borjeson Syndrome N/A N/A No information
Intellectual deficit -- multiple anomalies N/A N/A No information
Hip dysplasia -- enchondromata -- ecchondromata N/A N/A No information
Dextrocardia with situs inversus N/A N/A No information
Cerebro-oculo-nasal syndrome N/A N/A No information
Devriendt syndrome N/A N/A No information
Goldenhar disease N/A N/A No information
Gollop Coates syndrome N/A N/A No information
Goossens-Devriendt syndrome N/A N/A No information
Kumar levick syndrome N/A N/A No information
Levocardia N/A N/A No information
Megarbane-Loiselet syndrome N/A N/A No information
Mesomelic dysplasia, Savarirayan type N/A N/A No information
Morava-Mehes syndrome N/A N/A No information
Naguib syndrome N/A N/A No information
Schwartz newark syndrome N/A N/A No information
Sandrow syndrome N/A N/A No information
Turpin syndrome N/A N/A No information
Acro coxo mesomelic dysplasia N/A N/A No information
Acrofacial dysostosis autosomal recessive N/A N/A No information
Acrofacial dysostosis postaxial, atypical N/A N/A No information
Craniosynostosis Maroteaux Fonfria type N/A N/A No information
Antley-Bixler-like syndrome -- ambiguous genitalia -- disordered steroidogenesis N/A N/A No information
Bruck syndrome N/A N/A No information
Odonto-tricho-ungual-digito-palmarn syndrome N/A N/A No information
Volubilis, syndrome du N/A N/A No information
XLAG syndrome N/A N/A No information
Whistling face syndrome, recessive form N/A N/A No information
Axenfeld-Rieger anomaly -- hydrocephaly -- skeletal abnormalities N/A N/A No information
BEEC N/A N/A No information
Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex N/A N/A No information
BOR syndrome N/A N/A No information
Harper dwarfism N/A N/A No information
Iso-Kikuchi syndrome N/A N/A No information
Ives-Houston syndrome N/A N/A No information
Jirasek-Zuelzer-Wilson syndrome N/A N/A No information
Macrodactyly -- Hemihypertrophy -- Connective tissue nevi syndrome N/A N/A No information
Moynahan syndrome I N/A N/A No information
Moynahan syndrome III N/A N/A No information
Phillips-Griffiths syndrome N/A N/A No information
Cardiomelic syndrome Stratton Koehler type N/A N/A No information
Heterotaxy with polysplenia or asplenia N/A N/A No information
Viscero-atrial heterotaxia N/A N/A No information
Exstrophy of the bladder N/A N/A No information
Hydrocephalus -- growth retardation -- skeletal anomalies N/A N/A No information
Ruzicka-Goerz-Anton syndrome N/A N/A No information
Richieri-Costa-Orquizas syndrome N/A N/A No information
Ectodermal dysplasia, Margarita type N/A N/A No information
Billet-Bear syndrome N/A N/A No information
Charlie M syndrome N/A N/A No information
Hardikar syndrome N/A N/A No information
Barnicoat-Baraitser syndrome N/A N/A No information
Annular constricting bands N/A N/A No information
Bamforth syndrome N/A N/A No information
Cleidorhizomelic syndrome N/A N/A No information
Cortes-Lacassie syndrome N/A N/A No information
Renoanogenital syndrome N/A N/A No information
Crawfurd syndrome N/A N/A No information
Lockwood-Feingold syndrome N/A N/A No information
Horn-Kolb syndrome N/A N/A No information
Hunter-Mcdonald syndrome N/A N/A No information
Ho Kaufman-Mcalister syndrome N/A N/A No information
Acrofacial dysostosis -- ambiguous genitalia N/A N/A No information
Acrorenal syndrome recessive N/A N/A No information
Bowing, congenital, short bones N/A N/A No information
Blomstrand syndrome N/A N/A No information
Dysostosis acral with facial and genital abnormalities N/A N/A No information
Langer-Nishino-Yamaguchi syndrome N/A N/A No information
Blethen-Wenick-Hawkins syndrome N/A N/A No information
Left ventricle-aorta tunnel N/A N/A No information
Christian-Demyer-Franken syndrome N/A N/A No information
Hypoplastic thumb -- mullerian aplasia N/A N/A No information
Bindewald-Ulmer-Muller syndrome N/A N/A No information
Auriculo-condylar syndrome N/A N/A No information
Coffin syndrome 1 N/A N/A No information
Kantaputra-Gorlin syndrome N/A N/A No information
Johnson-Hall-Krous syndrome N/A N/A No information
Burnett-Schwartz-Berberian syndrome N/A N/A No information
Jones-Hersh-Yusk syndrome N/A N/A No information
Akaba-Hayasaka syndrome N/A N/A No information
Hordnes-Engebretsen-Knudtson syndrome N/A N/A No information
Cortada-Kousseff-Matsumoto syndrome N/A N/A No information
Christian's syndrome 1 N/A N/A No information
Frints -- De Smet -- Fabry -- Fryns syndrome N/A N/A No information
Cor biloculare N/A N/A No information
Calabro syndrome N/A N/A No information
Iida-Kannari syndrome N/A N/A No information
Idaho syndrome N/A N/A No information
Korula-Wilson-Salomonson syndrome N/A N/A No information
Genoa syndrome N/A N/A No information
Calloso-genital dysplasia N/A N/A No information
Campomelia Cumming type N/A N/A No information
Biliary hypoplasia N/A N/A No information
Camera-Marugo-Cohen syndrome N/A N/A No information
Pulmonary venous return anomaly N/A N/A No information
Bowing of long bones congenital N/A N/A No information
Hutterite cerebroosteonephrodysplasia syndrome N/A N/A No information
Acral dysostosis -- dyserythropoiesis N/A N/A No information
Arroyo -- Garcia -- Cimadevilla syndrome N/A N/A No information
Franceschini-Vardeu-Guala syndrome N/A N/A No information
Baby rattle pelvic dysplasia N/A N/A No information
Emanuel syndrome N/A N/A No information
Landy-Donnai syndrome N/A N/A No information
Hypoplasia hepatic ductular N/A N/A No information
Boscherini-Galasso-Manca-Bitti syndrome N/A N/A No information
Brachioskeletogenital syndrome N/A N/A No information
Hypomelia -- mullerian duct anomalies N/A N/A No information
Exstrophy of the bladder -- epispadias N/A N/A No information
Becker nevus syndrome N/A N/A No information
Fraser-Jequier-Chen syndrome N/A N/A No information
Frontofacionasal dysplasia type Al gazali N/A N/A No information
Poncet-Spiegler's cylindroma N/A N/A No information
Cousin Walbraum Cegarra syndrome N/A N/A No information
Bone dysplasia, lethal, Holmgren type N/A N/A No information
Burn-McKeown syndrome N/A N/A No information
Heterotaxy, visceral, X-linked N/A N/A No information
Hurst-Hallam-Hockey syndrome N/A N/A No information
Cerebrorenodigital syndrome with limb malformations and triradiate acetabula N/A N/A No information
Cardioauditory syndrome of Sanchez- Cascos N/A N/A No information
Gupta-Patton syndrome N/A N/A No information
Kozlowski-Celermajer syndrome N/A N/A No information
Koone-Rizzo-Elias syndrome N/A N/A No information
Laurence-Prosser-Rocker syndrome N/A N/A No information
Frontonasal malformation -- cloacal exstrophy N/A N/A No information
Hypertelorism and tetralogy of Fallot N/A N/A No information
Kozlowski-Rafinski-Klicharska syndrome N/A N/A No information
Johnson-Munson syndrome N/A N/A No information
Amastia, bilateral, with ureteral triplication and dysmorphism N/A N/A No information
Athelia N/A N/A No information
Celiac artery stenosis from compression by median arcuate ligament of diaphragm N/A N/A No information
Bland-Garland-White syndrome N/A N/A No information
Brushfield-Wyatt syndrome N/A N/A No information
Alajouanine syndrome N/A N/A No information
Ashley syndrome N/A N/A No information
Berndorfer syndrome N/A N/A No information
Bland-White -Garland syndrome N/A N/A No information
Braun-Bayer syndrome N/A N/A No information
Cervenka's syndrome N/A N/A No information
Chapple syndrome N/A N/A No information
Golden-Lakin syndrome N/A N/A No information
Gorlin-Sedano syndrome N/A N/A No information
Milner-Khallouf-Gibson syndrome N/A N/A No information
Maroteaux-Fonfria syndrome N/A N/A No information
Hypomandibular faciocranial dysostosis N/A N/A No information
Richieri-Costa-Silveira-Pereira syndrome N/A N/A No information
Orstavik-Lindemann-Solberg syndrome N/A N/A No information
Pterygium syndrome, X-linked N/A N/A No information
Miles-Carpenter X-linked mental retardation syndrome N/A N/A No information
Situs inversus, X-linked N/A N/A No information
Humerospinal dysostosis -- congenital heart disease N/A N/A No information
Short stature -- dysmorphic face -- pelvic scapula dysplasia N/A N/A No information
Slavotinek-Pike-Mills-Hurst syndrome N/A N/A No information
Siderius type X-linked mental retardation syndrome N/A N/A No information
Saal-Bulas syndrome N/A N/A No information
Michels-Caskey syndrome N/A N/A No information
Schwartz, Cohen-Addad, Lambert syndrome N/A N/A No information
Scholte syndrome N/A N/A No information
Pseudohermaphrodism -- anorectal anomalies N/A N/A No information
Say syndrome N/A N/A No information
Mesomelic dysplasia -- skin dimples N/A N/A No information
Samson-Gardner syndrome N/A N/A No information
Muller-Barth-Menger syndrome N/A N/A No information
Pointer syndrome N/A N/A No information
Temtamy syndrome N/A N/A No information
Allanson-Pantzar-McLeod syndrome N/A N/A No information
Pfeiffer-Tietze-Welte syndrome N/A N/A No information
Howard-Young syndrome N/A N/A No information
Reynolds-Neri-Hermann syndrome N/A N/A No information
Posterior valve, urethra N/A N/A No information
Diastematomyelia N/A N/A No information
Rasmussen-Johnsen-Thomsen syndrome N/A N/A No information
Melhem-Fahl syndrome N/A N/A No information
Oculofaciocardiodental syndrome N/A N/A No information
Spondylocostal dysostosis, Dandy-Walker N/A N/A No information
Pseudopapilledema -- blepharophimosis -- hand anomalies N/A N/A No information
Radio renal syndrome N/A N/A No information
Schisis association N/A N/A No information
Lateral body wall complex N/A N/A No information
Aphalangia -- syndactyly -- microcephaly N/A N/A No information
Robin sequence and oligodactyly N/A N/A No information
Sonoda syndrome N/A N/A No information
Say-Field-Coldwell syndrome N/A N/A No information
Auralcephalosyndactyly N/A N/A No information
Furlong-Kurczynski-Hennessy syndrome N/A N/A No information
Chitty-Hall-Webb syndrome N/A N/A No information
Thomas syndrome N/A N/A No information
Fuhrmann syndrome N/A N/A No information
Gollop syndrome N/A N/A No information
Gay-Feinmesser-Cohen syndrome N/A N/A No information
Fontaine-Farriaux-Blanckaert syndrome N/A N/A No information
Rhizomelic syndrome N/A N/A No information
Impossible syndrome N/A N/A No information
Craniodigital syndrome -- mental retardation N/A N/A No information
Tetraamelia -- multiple malformations N/A N/A No information
Goldblatt-Viljoen syndrome N/A N/A No information
Diphallus -- rachischisis -- imperforate anus N/A N/A No information
Hyperphalangism -- dysmorphy -- bronchomalacia N/A N/A No information
Axial mesodermal dysplasia spectrum N/A N/A No information
Short limb dwarf lethal, Mcalister Crane type N/A N/A No information
Talipes equinovarus N/A N/A No information
Czeizel-Losonci syndrome N/A N/A No information
Costocoracoid ligament, congenitally short N/A N/A No information
Manouvrier syndrome N/A N/A No information
Shoulder and thorax deformity, congenital heart disease N/A N/A No information
Symphalangism with multiple anomalies of hands and feet N/A N/A No information
Trueb-Burg-Bottani syndrome N/A N/A No information
Thanatophoric dysplasia, Glasgow variant N/A N/A No information
Facioskeletalgenital syndrome, Rippberger type N/A N/A No information
Oculomaxillofacial dysostosis N/A N/A No information
Santos-Mateus-Leal syndrome N/A N/A No information
Sclerocornea, Syndactyly, ambiguous genitalia N/A N/A No information
Imaizumi Kuroki syndrome N/A N/A No information
Lurie-Kletsky syndrome N/A N/A No information
Pulmonary hypoplasia familial primary N/A N/A No information
Fuqua-Berkovitz syndrome N/A N/A No information
Mullerian derivatives, persistent N/A N/A No information
Penoscrotal transposition N/A N/A No information
Tetraamelia with pulmonary hypoplasia N/A N/A No information
Stratton-Parker syndrome N/A N/A No information
Temtamy preaxial brachydactyly syndrome N/A N/A No information
Faciocardiomelic dysplasia, lethal N/A N/A No information
Ectodermal dysplasia mental retardation syndactyly N/A N/A No information
Saito-Kuba-Tsuruta syndrome N/A N/A No information
Pulmonary sequestration N/A N/A No information
Cormier Rustin Munnich syndrome N/A N/A No information
Tollner-Horst-Manzke syndrome N/A N/A No information
Thoracic celosomia N/A N/A No information
Ausems Wittebol-Post Hennekam syndrome N/A N/A No information
Paris-Trousseau thrombocytopenia N/A N/A No information
Karandikar-Maria-Kamble syndrome N/A N/A No information
Kozlowski-Brown-Hardwick syndrome N/A N/A No information
Ray-Peterson-Scott syndrome N/A N/A No information
Buntinx-Lormans-Martin syndrome N/A N/A No information
Hemihypertrophy -- intestinal web -- corneal opacity N/A N/A No information
Metaphyseal dysplasia -- maxillary hypoplasia -- brachydactyly N/A N/A No information
Selig-Benacerraf-Greene syndrome N/A N/A No information
Singh-Chhaparwal-Dhanda syndrome N/A N/A No information
Herrmann-Opitz craniosynostosi N/A N/A No information
Patterson-Stevenson syndrome N/A N/A No information
Halal syndrome N/A N/A No information
Trigonocephaly -- bifid nose -- acral anomalies N/A N/A No information
FACES syndrome N/A N/A No information
Jeune syndrome -- situs inversus N/A N/A No information
ECP syndrome N/A N/A No information
Dionisi-Vici-Sabetta-Gambarara syndrome N/A N/A No information
D ercole syndrome N/A N/A No information
Ectopia lentis, isolated N/A N/A No information
Daneman Davy Mancer syndrome N/A N/A No information
Ischiopatellar dysplasia N/A N/A No information
Raine syndrome N/A N/A No information
SCARF syndrome N/A N/A No information
Fried-Goldberg-Mundel syndrome N/A N/A No information
Faciothoracogenital syndrome N/A N/A No information
Powell-Chandra-Saal syndrome N/A N/A No information
Tetraploidy N/A N/A No information
Epiphyseal stippling syndrome -- osteoclastic hyperplasia N/A N/A No information
Oculo cerebro acral syndrome N/A N/A No information
Frias syndrome N/A N/A No information
Peptidic growth factors deficiency N/A N/A No information
Thakker-Donnai syndrome N/A N/A No information
Steinfeld syndrome N/A N/A No information
Fukuda-Miyanomae-Nakata syndrome N/A N/A No information
Frasier syndrome N/A N/A No information
Richieri Costa Guion-Almeida syndrome N/A N/A No information
Pulmonary supravalvular stenosis N/A N/A No information
Familial opposable triphalangeal thumbs duplication N/A N/A No information
Double uterus-hemivagina-renal agenesis N/A N/A No information
Aplasia cutis congenita of limbs recessive N/A N/A No information
Oslam syndrome N/A N/A No information
Oto-Palatal-digital syndrome N/A N/A No information
Palmer-Pagon syndrome N/A N/A No information
TAU syndrome N/A N/A No information
Complete atrioventricular canal N/A N/A No information
Irons-Bhan syndrome N/A N/A No information
McDonough syndrome N/A N/A No information
Seghers syndrome N/A N/A No information
Vertebral fusion- posterior lumbrosacral, blepharoptosis N/A N/A No information
Novak syndrome N/A N/A No information
Opthalmo acromelic syndrome N/A N/A No information
Kasznica-Carlson-Coppedge syndrome N/A N/A No information
Czeizel syndrome N/A N/A No information
Aughton syndrome N/A N/A No information
Tukel syndrome N/A N/A No information
Reardon-Hall-Slaney syndrome N/A N/A No information
Sackey-Sakati-Aur syndrome N/A N/A No information
Fernhoff-Blackston-Oakley syndrome N/A N/A No information
Edinburgh malformation syndrome N/A N/A No information
McGillivray syndrome N/A N/A No information
Spondyloepimetaphyseal dysplasia with hypotrichosis N/A N/A No information
Goldblatt-Wallis syndrome N/A N/A No information
Freire-Maia odontotrichomelic syndrome N/A N/A No information
Kennerknecht-Vogel syndrome N/A N/A No information
Smith-Martin-Dodd syndrome N/A N/A No information
Faciodigitogenital syndrome, recessive form N/A N/A No information
Culler-Jones syndrome N/A N/A No information
Dincsoy-Salih-Patel syndrome N/A N/A No information
Sanderson-Fraser syndrome N/A N/A No information
Sommer-Hines syndrome N/A N/A No information
Tsukuhara syndrome N/A N/A No information
Engelhard-Yatziv syndrome N/A N/A No information
MacDermot-Winter syndrome N/A N/A No information
Kennerknecht-Sorgo-Oberhoffer syndrome N/A N/A No information
Timothy syndrome N/A N/A No information
Garret-Tripp syndrome N/A N/A No information
Samson-Viljoen syndrome N/A N/A No information
Fitzsimmons-McLachlan-Gilbert syndrome N/A N/A No information
Ellis-Yale-Winter syndrome N/A N/A No information
Jorgenson-Lenz syndrome N/A N/A No information
Fryns-Hofkens-Fabry syndrome N/A N/A No information
Rhabdomyomatous dysplasia -- cardiopathy -- genital anomalies N/A N/A No information
Okamuto Satomura syndrome N/A N/A No information
Renal-genital-middle ear anomalies N/A N/A No information
Kosztolanyi syndrome N/A N/A No information
Stoll-Levy-Fancfort syndrome N/A N/A No information
Schmitt-Gillenwater-Kelly syndrome N/A N/A No information
Char syndrome N/A N/A No information
Houlston-Ironton-Temple syndrome N/A N/A No information
Simosa craniofacial syndrome N/A N/A No information
Omodysplasia N/A N/A No information
Sandhaus Ben-Ami syndrome N/A N/A No information
Myhre-Ruvalcaba-Graham syndrome N/A N/A No information
Hoon-Hall syndrome N/A N/A No information
Holoacardius amorphus N/A N/A No information
Renier-Gabreels-Jasper syndrome N/A N/A No information
Sallis-Beighton syndrome N/A N/A No information
Podder-Tolmie syndrome N/A N/A No information
Hunter-Carpenter-Macdonald syndrome N/A N/A No information
Illum syndrome N/A N/A No information
Cushing's symphalangism N/A N/A No information
Taussig Bing syndrome N/A N/A No information
Lanzietri syndrome N/A N/A No information
Holzgreve-Wagner-Rehder syndrome N/A N/A No information
Lowry syndrome N/A N/A No information
Rolland-Desbuquois syndrome N/A N/A No information
Kapur-Toriello syndrome N/A N/A No information
Multiple synostoses syndrome 1 N/A N/A No information
Pseudoaminopterin syndrome N/A N/A No information
Pallister-Ulnar mammary syndrome N/A N/A No information
Pulmonary cystic lymphangiectasis N/A N/A No information
Acrofacial dysostosis Rodriguez type N/A N/A No information
Coxa vara, congenital N/A N/A No information
Acromesomelic dysplasia Brahimi Bacha type N/A N/A No information
Allain Babin Demarquez syndrome N/A N/A No information
Albright like syndrome N/A N/A No information
Ampola syndrome N/A N/A No information
Al Awadi syndrome N/A N/A No information
Acromesomelic dysplasia Hunter Thompson type N/A N/A No information
Acrofacial dysostosis Catania form N/A N/A No information
Acromelic frontonasal dysplasia N/A N/A No information
ADULT syndrome N/A N/A No information
Al Gazali Aziz Salem syndrome N/A N/A No information
Acrofacial dysostosis, Palagonia type N/A N/A No information
Thanatophoric dysplasia N/A N/A No information
Buttiens-Fryns syndrome N/A N/A No information
Beemer-Ertbruggen syndrome N/A N/A No information
Carnevale-Hernandez-Castillo syndrome N/A N/A No information
Circumscribed cutaneous aplasia of the vertex N/A N/A No information
Blaichman syndrome N/A N/A No information
Chitty Hall Baraitser syndrome N/A N/A No information
Bixler-Christian-Gorlin syndrome N/A N/A No information
Ben-Ari-Shuper-Mimouni syndrome N/A N/A No information
Chitayat Meunier Hodgkinson syndrome N/A N/A No information
Lumbar malsegmentation -- short stature N/A N/A No information
Kashani-Strom-Utley syndrome N/A N/A No information
Rommen-Mueller-Sybert syndrome N/A N/A No information
Levotransposition of the great arteries N/A N/A No information
PHACE association N/A N/A No information
Cranioacrofacial syndrome N/A N/A No information
Coronaro-cardiac fistula N/A N/A No information
Kurczynski-Casperson syndrome N/A N/A No information
Le Marec-Bracq-Picaud syndrome N/A N/A No information
Faciocardiorenal syndrome N/A N/A No information
Thurman-Hillier syndrome N/A N/A No information
Smith-Lemli-Opitz syndrome, type 2 N/A N/A No information
Desbuquois syndrome N/A N/A No information
Ziprkowski-Adam syndrome N/A N/A No information
Pseudovaginal perineoscrotal hypospadias N/A N/A No information
Syndactyly, Cenani Lenz type N/A N/A No information
Forney Robinson Pascoe syndrome N/A N/A No information
Acrofacial dysostosis, Weyers type N/A N/A No information
Ivemark II N/A N/A No information
Camptomelic dysplasia I N/A N/A No information
Banki syndrome N/A N/A No information
De Lange 1 N/A N/A No information
Ebstein's anomaly N/A N/A No information
Ductus arteriosus, patent reversed flow N/A N/A No information
Acrorenal mandibular syndrome N/A N/A No information
Lambert syndrome N/A N/A No information
Kniest-like dysplasia lethal N/A N/A No information
Karsch-Neugenbauer syndrome N/A N/A No information
McKusick-Kaufman syndrome N/A N/A No information
Prune belly syndrome N/A N/A No information
Delleman-Oorthuys syndrome N/A N/A No information
Sulfatidosis juvenile, Austin type N/A N/A No information
Fronto-facio-nasal dysplasia N/A N/A No information
Bartsocas Papa syndrome N/A N/A No information
W syndrome N/A N/A No information
Juberg-Hayward syndrome N/A N/A No information
Scott syndrome N/A N/A No information
Roberts syndrome N/A N/A No information
Ventruto Digirolamo Festa syndrome N/A N/A No information
Winter Shortland Temple syndrome N/A N/A No information
Zori Stalker Williams syndrome N/A N/A No information
Yim Ebbin syndrome N/A N/A No information
Verloes-David Syndrome N/A N/A No information
Wiedemann Opitz syndrome N/A N/A No information
Willems De vries syndrome N/A N/A No information
Viljone Kallis Voges syndrome N/A N/A No information
Zazam Sheriff Phillips syndrome N/A N/A No information
Warburton Anyane Yeboa syndrome N/A N/A No information
Verloove Vanhorick Brubakk syndrome N/A N/A No information
Walbaum Titran Durieux Crepin syndrome N/A N/A No information
Von voss Cherstvoy syndrome N/A N/A No information
WT limb blood syndrome N/A N/A No information
Wisconsin syndrome N/A N/A No information
Zlotogora syndrome N/A N/A No information
Wolf-Hirschorn syndrome N/A N/A No information
Weaver Johnson syndrome N/A N/A No information
Wegmann Jones Smith syndrome N/A N/A No information
Zunich neuroectodermal syndrome N/A N/A No information
Zerres Rietschel Majewski syndrome N/A N/A No information
Schneckenbecken dysplasia N/A N/A No information
Ivemark III N/A N/A No information
Elejalde syndrome N/A N/A No information
Amyoplasia N/A N/A No information
Dahlberg syndrome N/A N/A No information
Boomerang dysplasia N/A N/A No information
Beemer-Langer syndrome N/A N/A No information
Crane-Heise syndrome N/A N/A No information
Currarino triad N/A N/A No information
Microcephaly, holoprosencephaly, and intrauterine growth retardation N/A N/A No information
Sillence syndrome N/A N/A No information
Knobloch syndrome N/A N/A No information
Rapadilino syndrome N/A N/A No information
Ivic Syndrome N/A N/A No information
Lewis (F.) syndrome N/A N/A No information
Sugarman II syndrome N/A N/A No information
Krause-Kivlin syndrome N/A N/A No information
Oromandibular-limb hypogenesis spectrum N/A N/A No information
Yunis Varon syndrome N/A N/A No information
Lenz Majewski hyperostotic dwarfism N/A N/A No information
Focal dermal hypoplasia N/A N/A No information
Sirenomelia N/A N/A No information
Femoral facial syndrome N/A N/A No information
EEC syndrome N/A N/A No information
Fibrochondrogenesis N/A N/A No information
Grebe Syndrome N/A N/A No information
Limb-body wall complex N/A N/A No information
TAR syndrome N/A N/A No information
Melnick-Fraser syndrome N/A N/A No information
Rapp-Hodgkin syndrome N/A N/A No information
Ablepharon macrostomia syndrome N/A N/A No information
Spherophakia brachymorphia syndrome N/A N/A No information
Van der Woude syndrome N/A N/A No information
CHILD syndrome ichthyosis N/A N/A No information
Acrofacial dysostosis, Nager type N/A N/A No information
Acrofacial dysostosis atypical postaxial N/A N/A No information
Anorchia N/A N/A No information
Craniosynostosis radial aplasia syndrome N/A N/A No information
Van der Woude syndrome 2 N/A N/A No information
Uhl anomaly N/A N/A No information
Urogenital adysplasia N/A N/A No information
Van Goethem syndrome N/A N/A No information
Urogenital adysplasia, hereditary N/A N/A No information
Venencie Powell Winkelmann syndrome N/A N/A No information
Upton Young syndrome N/A N/A No information
Van Regemorter Pierquin Vamos syndrome N/A N/A No information
Van De Berghe Dequeker syndrome N/A N/A No information
Van Allen Myhre syndrome N/A N/A No information
Sakati syndrome N/A N/A No information
Congenital tracheal stenosis N/A N/A No information
Cayler syndrome N/A N/A No information
Nonne-Milroy disease N/A N/A No information
Fallot syndrome N/A N/A No information
Warfarin syndrome N/A N/A No information
Frontonasal dysplasia N/A N/A No information
Lubs syndrome N/A N/A No information
Corpus callosum agenesis N/A N/A No information
Oculo-dento-digital dysplasia dominant N/A N/A No information
Acro-reno-ocular syndrome N/A N/A No information

Types of Congenital conditions -- physical defects

For more information about types of Congenital conditions -- physical defects, refer to our section on types of Congenital conditions -- physical defects.

About incidence:

The medical term 'incidence' of Congenital conditions -- physical defects usually refers to the annual diagnosis rate of new cases of Congenital conditions -- physical defects. Prevalence is a different medical disease measure that refers to the estimated population of people who are managing Congenital conditions -- physical defects at any given time (e.g. prevalence includes people who have had a medical condition for a long time). For more information on prevalence and incidence statistics, see about prevalence and incidence statistics.



Footnotes:
1. Pathophysiology of Disease, Stephen J. McPhee, Vishwanash R. Lingappa, Willim F. Ganong, Jack D. Lang, Prentice Hall, 1995
2. Childhood Symptoms, Edward R. Brace, John P. Pacanowski, Ed Weiner, 1992
 

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