Glossary for Willems De vries syndrome

• Achondrogenesis: A group of disorders characterized by abnormal bone and cartilage development.
• Achondrogenesis type 2: A rare genetic disorder characterized by very small stature, abnormal bone formation and early death.
• Achondrogenesis, Langer-Saldino Type: A rare genetic disorder characterized by very small stature, abnormal bone formation and early death.
• Achondrogenesis, type 3: Severely abnormal bone development which invariably results in death before or soon after birth. Type III may actually be a part of achondrogenesis type II.
• Achondrogenesis, type 4: A rare genetic disorder characterized by very small stature, abnormal bone formation and early death. It has been designated as a mild form of Langer-Saldino achondrogenesis.
• Acro coxo mesomelic dysplasia: A rare inherited form of dwarfism characterized mainly by shortening of the middle and end parts of the limbs.
• Acrocapitofemoral dysplasia: A rare inherited disorder characterized mainly by short limbs, dwarfism and cone-shaped epiphyses mainly in the hands and hips.
• Acrodysostosis: A rare genetic disorder characterized by short hands, small nose, mental deficiency and hand and foot deformities.
• Acrofacial dysostosis Rodriguez type: One of a group of disorders characterized by defective limb and facial development. The Rodriguez type is very rare and primarily involves severe limb and organ malformations.
• Acrofacial dysostosis, Weyers type: A rare disorder characterized by facial abnormalities and extra digits, nail abnormalities and short limbs.
• Acrofrontofacionasal dysostosis syndrome: A very rare syndrome characterized by abnormalities of the bones of the skeleton as well as mental retardation. Various facial, eye and urogenital anomalies are also present.
• Acromesomelic dysplasia: A rare genetic progressive skeletal disorder characterized by short limbs, a large head and lower thoracic kyphosis.
• Acromesomelic dysplasia, Maroteaux type: A rare genetic syndrome characterized by various developmental abnormalities of the skeletal bones and facial anomalies.
• Ampola syndrome: A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities.
• Anauxetic dysplasia: A rare disorder characterized by abnormal skeletal and spinal development.
• Arthrogryposis multiplex congenita neurogenic type: A rare non-progressive syndrome characterized by congenital contractures that originates from a nerve problem (spinal motor neuron depletion).
• Asphyxiating Thoracic Dystrophy: A rare genetic disorder characterized by short limbs, underdeveloped iliac wings and a narrow rigid thoracic cage that often results in asphyxiation.
• Astley-Kendall syndrome: A very rare syndrome involving abnormal skeletal development and resulting in short limbs, fragile bones and cartilage abnormalities. The condition generally results in stillbirth or death during early infancy.
• Bagatelle-Cassidy syndrome: An extremely rare syndrome characterized by a large head, widely spaced eyes, hearing loss, short limbs and developmental delay.
• Barrow-Fitzsimmons Syndrome: A rare (only one reported case) inherited condition characterized by short limbs, an unusual facial appearance and congenital heart disease.
• Beemer-Langer syndrome: A very rare inherited condition characterized by a number of congenital abnormalities and death generally occurs during early infancy.
• Blethen-Wenick-Hawkins syndrome: A rare syndrome characterized mainly by short stature, skeletal abnormalities and reduced pituitary gland functioning.
• Blue sclerae: Blue colouring of the sclerae in the eye.
• Bone conditions: Conditions that affect the bones
• Bone dysplasia, lethal, Holmgren type: A rare lethal bone malformation syndrome.
• Bowing, congenital, short bones: A rare syndrome characterized mainly by broad, bowed bones affecting mainly the thigh bone and upper arm bones.
• Brachydactyly: A rare genetic disorder characterized by short stature, short fingers and toes and facial anomalies.
• Brachydactyly -- mesomelia -- mental retardation -- heart defects: A rare genetic disorder characterized by mental retardation, heart defects, short digits and short limbs.
• Brachydactyly, mesomelia, mental retardation, aortic dilation, mitral valve prolapse and characteristic face: A rare syndrome characterized by short digits, short limbs, mental retardation, aortic dilation, mitral valve prolapse and a characteristic face.
• Camptomelic dysplasia I: A rare condition characterized by dwarfism due to bowed shin and thigh bones.
• Camptomelic dysplasia II: A rare condition characterized by dwarfism due to bowed shin and thigh bones which tend to be shorter and wider than normal.
• Cartilage Hair Hypoplasia: A rare genetic disorder characterized by short stature, skeletal abnormalities and fine, fragile hair.
• Cartilage-hair hypoplasia-like syndrome: A rare syndrome characterized by thin hair shafts, short stature, short limbs and other skeletal abnormalities. The condition is identical to the skeletal abnormality component of cartilage-hair hypoplasia syndrome.
• Cerebro oculo skeleto renal syndrome: A very rare syndrome characterized mainly by brain, eye, skeletal and kidney abnormalities.
• Chondrodysplasia: Hereditory bone dysplasia.
• Chondrodysplasia -- disorder of sex development: A very rare syndrome characterized mainly by severe dwarfism, abnormal bone development and central nervous system and eye problems.
• Chondrodysplasia -- pseudohermaphrodism: A very rare syndrome characterized mainly by severe dwarfism, abnormal bone development and central nervous system and eye problems.
• Chondrodysplasia punctata: A group of inherited disorder affecting the skeleton, skin, eyes and mental function. The disorders are characterized mainly by stippled epiphyses (abnormal calcification near joints) during infancy. The various forms of the disorders have varying severity with some causing death before or soon after birth. The range of symptoms also various between the various types.
• Chondrodysplasia punctata lethal neonatal: A rare skeletal disorder which results in the infant's death before or soon after birth. Symptoms include a variety of severe skeletal abnormalities and an enlarged head.
• Chondrodysplasia punctata with steroid sulfatase deficiency: A genetic skeletal and skin disorder involving a deficiency of steroid sulfatase. The skin condition is characterized by large brownish scales which can occur almost anywhere on the skin and can be disfiguring. The face, scalp, palms and soles are usually not involved. The skeletal disorder involves abnormal bone calcification near the joints also results in shortened limbs.
• Chondrodysplasia punctata, non rhizomelic type: A group of inherited disorder affecting the skeleton, skin, eyes and mental function. The disorders are characterized mainly by stippled epiphyses (abnormal calcification near joints) during infancy. The non-rhizomelic forms tend to be milder, with minimal or no upper limb shortening. The Joints in the ends of the arms and legs tend to be more affected. Some of the specific disorders in this group are Conradi-Hunermann disease, Happle's chondrodysplasia and brachytelephalagnic chondrodysplasia punctata. The range of symptoms and severity may vary between disorders.
• Chondrodysplasia punctata, tibia-metacarpal type: A rare inherited disorder involving abnormal skeletal development and characterized mainly by short shin bones and shortness of some metacarpal bones (hand bones).
• Chondrodystrophy: The abnormal development of cartilage which affects bone growth. The long bones of the body tend to be affected the most and results in short limbs.
• Christian-Demyer-Franken syndrome: A rare syndrome characterized mainly by mental retardation and skeletal abnormalities.
• Chromosome 12, Isochromosome 12p Mosaic: A very rare disorder genetic disorder involving abnormalities in chromosome 12. The severity of symptoms is variable and tends to include a wide range of defects and abnormalities.
• Chromosome 12p tetrasomy syndrome: A rare chromosomal disorder where there are four copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities.
• Chromosome 22 trisomy mosaic: A rare chromosomal disorder where three copies of chromosome 22 are present in some of the body's cells instead of the normal two. Severity of symptoms is determined by how many cells have the extra chromosomal material.
• Chromosome 9 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 9 in the body's cells instead of the normal two resulting in various abnormalities.
• Chromosome 9, trisomy: A rare chromosomal disorder where there are three copies of chromosome 9 in the body's cells instead of the normal two resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• Cleft lip -- palate -- abnormal thumbs -- microcephaly: A very rare syndrome characterized by a small head, thumb abnormalities and a cleft lip and palate.
• Cleft palate: Birth defect of lip and mouth.
• Cleidorhizomelic syndrome: A very rare inherited syndrome mainly involving skeletal abnormalities.
• Colavita-Kozlowski syndrome: A very rare syndrome characterized by dwarfism and resulting in death at birth or in the weeks following birth.
• Congenital brain dysgenesis due to glutamine synthetase deficiency: A rare genetic metabolic disorder characterized by a deficiency of the glutamine synthase enzyme. This results in a lack of glutamine in the serum, urine and brain and spinal fluid. The condition results in severe brain malformations and infant death within weeks of birth.
• Congenital conditions: Any condition that you are born with such as birth defects or genetic diseases.
• Congenital conditions -- physical defects: Congenital (birth) defects causing a physical structure defect (rather than metabolic).
• Coxoauricular syndrome: A very rare syndrome characterized by skeletal and ear abnormalities, short stature and deafness.
• Cranioectodermal dysplasia: A rare condition involving various congenital deformities such as short stature, long head, widely spaced eyes and teeth abnormalities.
• Craniomicromelic syndrome: A very rare syndrome characterized by skull and facial abnormalities, short arms and legs and retarded fetal growth.
• Desmosterolosis: A rare condition characterized by abnormal cholesterol biosynthesis where one of the intermediate products of cholesterol synthesis (desmosterol) is deposited in the body (plasma and other tissues). The condition also involves variable congenital anomalies which can be lethal in some cases.
• Dincsoy-Salih-Patel syndrome: A very rare syndrome characterized mainly by a cleft lip and palate, brain abnormality, short limbs and genital abnormalities.
• Dup (3) (q21-qter) and del (11) (q23-qter): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
• Dwarfism -- bluish sclerae: A form of dwarfism that also involves the presence of bluish sclera (due to abnormally thin sclera).
• Dwarfism, short-limb -- absent fibulas -- very short digits: A very rare disorder characterized by short limbs, missing calf bones and very short fingers and toes due to under developed or missing bones.
• Dyschondrosteosis -- nephritis: A very rare syndrome characterized mainly by abnormal bone development and kidney disease.
• Dysostosis acral with facial and genital abnormalities: A very rare inherited disorder characterized by short stature and head, face, skeletal and genital abnormalities. The facial appearance is that of a two-month old fetus. The severity and range of symptoms is variable. This dominantly inherited form of Robinow syndrome tends to be milder than the recessive form.
• Ear and Hearing conditions: Medical conditions affecting the ears or the hearing systems.
• Enchondromatosis-dwarfism-deafness: A rare syndrome characterized mainly by short limbs, short stature, asymmetrical limbs, deafness and abnormal bone development.
• Epimetaphyseal skeletal dysplasia: A rare syndrome characterized mainly by abnormal bone development.
• Epiphyseal stippling syndrome -- osteoclastic hyperplasia: A rare syndrome characterized by abnormal bone development primarily affecting the long bones and lower spine.
• Faye-Petersen-Ward-Carey syndrome: A very rare syndrome characterized by excess fluid in the skull, a blood disorder and bone and bone abnormalities.
• Fetal aminopterin syndrome: A rare disorder which produces multiple abnormalities and results from a failed abortion attempt using the drugs aminopterin and methotrexate.
• Glutamine deficiency, congenital: A rare genetic metabolic disorder characterized by a deficiency of the glutamine synthase enzyme. This results in a lack of glutamine in the serum, urine and brain and spinal fluid. The condition results in infant death within weeks of birth.
• Gracile bone dysplasia: An inherited disorder characterized by brittle bones and thin, slender long bones and ribs as well as other abnormalities.
• HEM dysplasia: A rare disorder characterized by hydrops, dwarfism and abnormal bone calcification. The condition generally results in fetal death.
• Hall-Riggs mental retardation syndrome: A rare inherited disorder characterized by mental retardation, distinctive facial features and various bone abnormalities.
• Head Conditions: Conditions that affect the head
• Hearing loss: A very rare condition described in two sisters. It is characterized by vision and hearing problems and incoordination.
• Hunter-Carpenter-Macdonald syndrome: A very rare syndrome characterized by various abnormalities including small head, facial anomalies, mental retardation and hair, skin and nail anomalies. Fetal exposure to alcohol is believed to be a factor in the syndrome.
• Hunter-MacDonald syndrome: A rare syndrome characterized by multiple skeletal abnormalities, short stature, unusual facial features, hearing loss and a predisposition for developing meningiomas.
• Hypochondroplasia: A rare genetic disorder characterized by short stature which becomes more obvious during and after childhood.
• Hypophosphatasia: A rare genetic disorder characterized by short limbs, dwarfism and general lack of bone calcification.
• Hypothalamic hamartomas: A benign congenital tumor that develops on or near the hypothalamus.
• IMAGe syndrome: A rare syndrome characterized by retarded fetal growth, abnormal bone development, underdeveloped adrenal glands and genital abnormalities.
• Intrauterine growth retardation -- metaphyseal dysplasia -- adrenal hypoplasia congenita -- genital anomalies: A rare syndrome characterized by retarded fetal growth, abnormal bone development, underdeveloped adrenal glands and genital abnormalities.
• Jeune syndrome: A rare genetic disorder characterized by short limbs, underdeveloped iliac wings and a narrow rigid thoracic cage that often results in asphyxiation.
• Knee conditions: Any condition that affects the knee
• Kniest dysplasia: A rare genetic bone growth disorder characterized by dwarfism, enlarged joints and facial deformities.
• Kozlowski-Celermajer syndrome: A rare disorder characterized by congenital heart disease and spine and upper arm bone abnormalities.
• Krause-Kivlin syndrome: A rare genetic disorder characterized by short limb dwarfism, mental retardation and Peters anomaly.
• Langer mesomelic dysplasia: A rare genetic disorder characterized by mesomelic dwarfism, small jaw and forearm abnormalities.
• Larsen-like syndrome, lethal form: A very rare lethal syndrome characterized mainly by joint dislocations and breathing problems due to respiratory system abnormalities. The condition is a manifestation of abnormal collagen formation.
• Larsen-like syndrome, lethal type: A very rare lethal syndrome characterized mainly by joint dislocations and breathing problems due to respiratory system abnormalities.
• Limb conditions: Medical conditions affecting the upper or lower limbs.
• Limb reduction defect (generic term): A birth defect where all or part of a limb is absent.
• Macrocephaly, facial abnormalities, disproportionate tall stature and mental retardation: A rare syndrome characterized by tall stature, mental retardation, large head and facial abnormalities.
• Maroteaux-Stanescu-Cousin syndrome: A very rare lethal syndrome characterized mainly by abnormal bone development.
• McKusick type metaphyseal chondrodysplasia: A rare genetic disorder characterized by short stature, skeletal abnormalities and fine, fragile hair.
• Mental retardation -- macrocephaly -- coarse facies -- hypotonia: A very rare syndrome characterized mainly by mental retardation, large head, coarse face and reduced muscle tone.
• Mental retardation unusual facies ampola type: A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities.
• Mesomelia radial hypoplasia bifid thumb unusual facies: A rare syndrome characterized mainly by skeletal abnormalities, dwarfism and hair, nail, skin and teeth abnormalities.
• Mesomelic dysplasia, Savarirayan type: A rare syndrome characterized mainly by limb and pelvic bone abnormalities which results in short stature. The shin bone is underdeveloped and the calf bone is absent.
• Metaphyseal acroscyphodysplasia: A very rare syndrome characterized mainly by bone abnormalities mainly involving the legs, and fingers and the arms to a lesser extent.
• Metaphyseal chondrodysplasia, recessive type: A recessively inherited skeletal disorder characterized by abnormal development of the bone metaphyses which results in short stature from birth.
• Metaphyseal dysostosis mental retardation conductive deafness: A rare, recessively inherited disorder characterized by mental retardation, deafness and skeletal abnormalities.
• Metatrophic dysplasia: A very rare form of dwarfism involving short limbs and a long trunk. Less than 100 cases of the condition have been reported.
• Metatropic dwarfism: A rare genetic disorder characterized by extremely small stature, short limbs and skeletal abnormalities.
• Microcephaly: Small head circumference
• Micromelic dwarfism, Fryns type: A very rare syndrome characterized mainly by short-limbed dwarfism.
• Micromelic dysplasia -- dislocation of radius: A rare disorder characterized by short-limbed dwarfism, dislocated forearm and facial anomalies.
• Mouth conditions: Any condition that affects the mouth
• Musculoskeletal conditions: Medical conditions affecting the musculoskeletal system of bones, muscles and related structures.
• Neu-Laxova Syndrome: A rare fatal genetic disorder characterized by microcephaly and multiple congenital abnormalities. Death occurs during the fetal or newborn stage.
• Nivelon-Nivelon-Mabille syndrome: A very rare syndrome characterized mainly by severe dwarfism, abnormal bone development and central nervous system and eye problems.
• Oculo skeletal renal syndrome: A very rare syndrome characterized mainly by eye, skeletal and kidney problems.
• Oral facial digital syndrome, type 4: A rare inherited disorder characterized by facial, digital and oral abnormalities. Type IV is differentiated from the other types by the presence of severe shinbone deformity.
• Oral facial digital syndrome, type IV: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps, finger abnormalities, brain defects and short stature.
• Osteogenesis imperfecta congenita, microcephaly, and cataracts: A rare genetic connective tissue disorder charactedrized by blue sclerae, cataracts and microcephaly - a lethal form of osteogenesis imperfecta.
• Osteoglophonic dwarfism: A form of dwarfism characterized by premature fusion of skull bones, short limbs and digits, facial abnormalities and bone development anomalies.
• Pallister Killian Mosaic Syndrome: Pallister Killian Mosaic Syndrome is a very rare disorder genetic disorder involving abnormalities in chromosome 12. The severity of symptoms is variable and tends to include a wide range of defects and abnormalities.
• Pallister Mosaic Syndrome Tetrasomy 12p: A very rare disorder genetic disorder involving abnormalities in chromosome 12. The severity of symptoms is variable and tends to include a wide range of defects and abnormalities.
• Pallister-Hall Syndrome: A rare genetic disorder characterized by hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and polydactyly.
• Pallister-Killian Syndrome: A rare genetic disorder due to tetrasomy of the 12th chromosome
• Perinatal hypophosphatasia: An inherited bone disorder due to an inborn error of metabolism characterized by a severe deficiency of alkaline phosphate which results in death before or within days of birth.
• Pfeiffer-Hirschfelder-Rott syndrome: A very rare syndrome characterized by facial and kidney anomalies and a type of dwarfism where the farthest parts of the limbs suffer the greatest degree of shortness.
• Phocomelia -- thrombocytopenia -- encephalocele -- urogenital malformation: An early congenital condition that is characterized by multiple congenital anomalies. The severity and range of abnormalities may vary amongst patients.
• Polyneuropathy -- mental retardation -- acromicria -- premature menopause: A very rare syndrome characterized mainly by premature menopause, sensory impairment, mental retardation and small, delicate facial bones.
• Pseudoachondroplasia: A rare genetic disorder characterized by bone growth and development abnormalities.
• Pseudoaminopterin syndrome: A very rare condtion characterized by mental and physical retardation, skull abnormalities and skeletal defects. The symptoms observed are similar to those caused by aminopterin which was once used to induce abortions but in the pseudo form there is no evidence of exposure to aminopterin.
• Pyknoachondrogenesis: A very rare lethal syndrome characterized mainly by abnormal skeletal growth as well as abnormal bone calcification.
• Reardon-Hall-Slaney syndrome: A very rare syndrome characterized mainly by short limbs, cleft palate and permanently flexed fingers.
• Rheumatic conditions: Any condition that affects ones joints
• Robinow-like syndrome: A very rare syndrome characterized mainly by growth problems before and after birth as well as genital and head anomalies.
• Roifman syndrome: A rare syndrome characterized by abnormal bone growth, immune deficiency and an eye disorder.
• Rolland-Desbuquois syndrome: A condition characterized by dwarfism, hydrocephalus, facial abnormalities and a narrow chest. Survival is possible past infancy. The condition is a less severe form of Silverman-Handmaker syndrome which is lethal.
• Saito-Kuba-Tsuruta syndrome: A very rare syndrome characterized by kidney abnormalities and an abnormal calf bone or forearm bone (ulna). Only a few cases of the syndrome have been reported.
• Satoyoshi syndrome: A very rare syndrome characterized by alopecia, diarrhea, skeletal abnormalities and painful leg cramps caused by physical exercise or emotional stress.
• Short limb dwarf mental retardation myopia: A rare syndrome characterized mainly by short stature, mental retardation and myopia.
• Short limbs subluxed knees cleft palate: A rare syndrome characterized mainly by short limbs, partially dislocated knees and a cleft palate.
• Short rib-polydactyly syndrome, Majewski type: A rare genetic disorder which is a lethal form of short-limb dwarfism and is characterized by short stature, disproportionately short limbs, extra fingers and toes and other deformities.
• Short rib-polydactyly syndrome, Saldino-Noonan type: A rare genetic disorder characterized by short stature, bone formation abnormalities, heart defects and other deformities.
• Shwachman syndrome: A rare disorder where a pancreatic defect impairs digestive enzyme production and malfunction of the bone marrow produces blood abnormalities, particularly blood cells involved with fighting infection. These defects produce a range of symptoms as a result of malabsorption and poor ability to fight infections. Characterized by a lack of digestive enzymes and low immunity due to low leukocyte level.
• Shwachman-Diamond Syndrome:
• Skin symptoms: Symptoms affecting the skin.
• Smith-Lemli-Opitz syndrome, type 2: A rare birth disorder where an enzyme deficiency (7-dehydrocholesterol reductase) prevents cholesterol being metabolized properly. The condition causes a variety of physical abnormalities. Type II is a more severe form of the condition.
• Splenogonadal fusion -- peromelia syndrome: A syndrome characterized by the fusion of the testes or ovaries to the spleen as well as limb defects.
• Spondylocostal dysostosis, Dandy-Walker: A rare syndrome characterized mainly by rib and spine abnormalities as well as the Dandy-Walker anomaly (brain cyst).
• Spondyloenchondrodysplasia: A rare genetic disorder where abnormal bone development resluts in symptoms such as flattened spine bones, short stature, large joints and other anomalies. The disorder is also characterized by the development of benign cartilage growths in bones which affects it's growth and strength.
• Spondyloepimetaphyseal dysplasia congenita, Iraqi: A very rare syndrome characterized mainly by abnormal bone growth. Only a few cases have been reported.
• Spondyloepimetaphyseal dysplasia with abnormal dentition: A rare skeletal disorder where the spine and long bones grow and develop abnormally. This particular type also involves tooth abnormalities.
• Spondyloepimetaphyseal dysplasia with hypotrichosis: A rare skeletal disorder where the spine and long bones grow and develop abnormally as well as reduced hair.
• Spondyloepimetaphyseal dysplasia, Missouri type: A rare skeletal disorder where the spine and long bones grow and develop abnormally. The Missouri type is characterized by bowed legs, short limbs and abnormal vertebral shape.
• Spondylometaphyseal dysplasia -- cone-rod dystrophy: A rare syndrome characterized by skeletal abnormalities (spine and metaphyses) and an eye disorder. Vision impairment starts early in life and tends to progress but often stabilizes during adolescence.
• Stanescu syndrome: A rare disorder involving abnormal bone and cartilage development
• Thanatophoric dysplasia:
• Thanatophoric dysplasia, Glasgow variant: A lethal form of dwarfism.
• Thanatophoric dysplasia, type 1: A rare lethal genetic disorder characterized by severe skeletal abnormalities, flat vertebrae, large head and low nasal bridge.
• Thanatophoric dysplasia, type 2: A rare lethal genetic disorder characterized by severe skeletal abnormalities, flat vertebrae, large head and low nasal bridge.
• Thoracic dysplasia -- hydrocephalus syndrome: A very rare syndrome characterized by abnormal chest development and excess fluid inside the skull.
• Thoracolimb dysplasia, Rivera type: A very rare syndrome characterized mainly by chest and limb abnormalities.
• Type II Achondrogenesis-Hypochondrogenesis: A rare genetic disorder characterized by very small stature, abnormal bone formation and early death.
• Velofacioskeletal syndrome: A ver rare sydnrome characterized mainly by short stature and facial and skeletal abnormalities.
• Verloes Van Maldergem Marneffe syndrome: A condition that is characterised by dwarfing skeletal dysplasia.
• Verloes-David Syndrome: An inherited condition characterised by shortness of stature and multiple skeletal abnormalities.
• Wegmann Jones Smith syndrome: A syndrome which is characterised by the occurrence of short limbs, oedema and iris coloboma
• Willems De vries syndrome: A syndrome that is characterised by prominent short limbs, subluxed knees and a cleft palate

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