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Symptoms » Beaked nose » Glossary
 

Glossary for Beaked nose

Medical terms related to Beaked nose or mentioned in this section include:

  • 3q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 3 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Acrocephalosyndactyly Syndrome type 5: A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity.
  • Acrocephalosyndactyly type 3 (ACPS 3): A rare genetic disorder characterized by premature joining of certain skull bones during development which has an impact on the shape of the head and face. Features include brachycephaly, ear deformities as well as craniofacial, finger and bone abnormalities.
  • Acrocephalosyndactyly type 5 (ACPS 5): A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity.
  • Acrofacial dysostosis autosomal recessive: A rare inherited disorder characterized mainly by facial, hand and foot anomalies. The disorder resembles Nager syndrome.
  • Acrosphenosyndactylia: A rare condition characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of the skull fuse together too early which prevents it from growing normally. Various toes and fingers may be fused together.
  • Alar cartilages hypoplasia -- coloboma -- telecanthus: A rare inherited disorder characterized by a cleft in the nose cartilage and an increased distance between the corner of the eye and the nose (telecanthus).
  • Ampola syndrome: A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities.
  • Aortic arch anomaly with peculiar facies and mental retardation: A very rare syndrome characterized by mental retardation, characteristic facial anomalies and abnormal position of the aorta.
  • Apert syndrome: A rare condition characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of the skull fuse together too early which prevents it from growing normally. Various toes and fingers may be fused together.
  • Arterial tortuosity syndrome: A rare disorder which affects the connective tissue that makes up blood vessels resulting in various arterial abnormalities. Connective tissue abnormalities also affect the skin and joints.
  • Asymmetric short stature syndrome: A rare disorder characterized mainly by short stature, unequal leg lengths and facial anomalies.
  • Ataxia -- diabetes -- goiter -- gonadal insufficiency: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
  • Bangstad syndrome: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
  • Baraitser-Rodeck-Garner syndrome: A very rare syndrome characterized primarily by mental retardation, premature fusion of skull bones, kidney anomalies, seizures and facial anomalies.
  • Berlin Breakage syndrome: A very rare syndrome characterized mainly by a small head, reduced immunity and increased risk of cancer. The features of this condition are virtually indistinguishable from the Nigmegen Breakage syndrome.
  • Bird-headed dwarfism with progressive ataxia, Insulin-resistant diabetes, goiter and primary gonadal insufficiency: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
  • Bone symptoms: Symptoms affecting the body's bones
  • 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.
  • Breath symptoms: Breath-related symptoms including breath odor
  • Breathing symptoms: Symptoms affecting the breathing systems.
  • Buntinx-Lormans-Martin syndrome: A very rare syndrome characterized mainly by eye anomalies and fusion of the forearm bones.
  • Chromosome 1, Partial Trisomy: A rare genetic disorder where part of the genetic material from chromosome 1 is duplicated so there are three copies in the body's cells rather than the normal two copies. The type and severity of symptoms is variable depending on the size and location of the genetic material duplicated.
  • Chromosome 1, trisomy 1q32 qter: A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as retarded fetal growth, facial anomalies, mental retardation, stillbirth, heart defects and finger and toe abnormalities.
  • Chromosome 10, Monosomy 10p:
  • Chromosome 10p deletion syndrome: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 10 resulting in variable abnormalities.
  • Chromosome 10p terminal deletion syndrome: A very rare syndrome caused by a chromosomal defect (10p terminal deletion) and can result in a variety of malformations that are similar to DiGeorge syndrome and velocardiofacial syndrome.
  • Chromosome 15q duplication syndrome: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
  • Chromosome 15q, deletion: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 15.
  • Chromosome 15q, trisomy: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
  • Chromosome 1q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 1 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 2 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 2 instead of the normal two.
  • Chromosome 4 Ring: A rare chromosomal disorder where the ends of chromosome 4 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size and location of the genetic deletion.
  • Chromosome 4 ring syndrome: A rare chromosomal disorder where the ends of chromosome 4 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size and location of the genetic deletion.
  • Chromosome 4 short arm deletion: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 4, monosomy 4p14 p16: A rare chromosomal disorder characterized by various abnormalities including muscle problems, tall stature, mental retardation and hand and facial anomalies.
  • Chromosome 4p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 4p15-16 deletion syndrome: A rare chromosomal disorder where part of the short arm (p15-16) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 7, trisomy 7p: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
  • Chromosome 7p duplication syndrome: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
  • Chromosome 8, trisomy 8q: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
  • Chromosome 8q duplication syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
  • Chromosome 9, Tetrasomy 9p: A rare chromosomal disorder where there is four copies of the short arm of chromosome 9 instead of the normal two resulting in various abnormalities.
  • Chromosome 9, trisomy 9q: A very rare genetic disorder where a portion of the genetic material on the long arm (q) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
  • Chromosome 9, trisomy 9q32: A rare chromosomal disorder where duplication of a portion of chromosome 9 causes various abnormalities such as short stature and mental retardation and facial anomalies.
  • Chromosome 9p tetrasomy syndrome: A rare chromosomal disorder where there is four copies of the short arm of chromosome 9 instead of the normal two resulting in various abnormalities.
  • Chromosome 9q duplication: A very rare genetic disorder where a portion of the genetic material on the long arm (q) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
  • Chromosome 9q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 9 resulting in various abnormalities.
  • Chromosome 9q duplication/chromosome 9p deletion syndrome: A rare chromosomal disorder where part of the long arm (q) of chromosome 9 is duplicated and part of the short arm (p) is deleted resulting in various abnormalities. These chromosomal abnormality occurs in only some of the body's cells (mosaicism).
  • Classical Potter syndrome: A term that describes the physical appearance that occurs when kidney disease results in a reduced volume of amniotic fluid. In the classical type, both kidneys are absent.
  • Congenital hypoparathyroidism, seizures, growth and mental retardation and unusual facies: A rare syndrome characterized mainly by growth and mental retardation, seizures, unusual facial appearance and congenital hypoparathyroidism.
  • Craniosynostosis Maroteaux Fonfria type: A rare disorder which is similar to a condition called Apert syndrome but also involves extra fingers and toes. Apert syndrome is characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of the skull fuse together too early which prevents it from growing normally
  • Craniosynostosis mental retardation clefting syndrome: A rare disorder characterized by premature fusion of the skull bones (craniosynostosis), mental retardation a cleft lip and/or palate.
  • Crouzonodermoskeletal syndrome: A rare disorder characterized by the premature jointing of the skull bones as well as acanthosis nigricans which is a skin condition.
  • Davis-Lafer syndrome: A very rare syndrome characterized mainly by mental retardation and unusual facial features.
  • Deletion 10pter: A very rare syndrome caused by a chromosomal defect (10p terminal deletion) and can result in a variety of malformations that are similar to DiGeorge syndrome and velocardiofacial syndrome.
  • Deletion 10q: A rare disorder caused by the deletion of a portion of chromosome 10q. The range and severity of symptoms is determined by the size of the portion that is deleted.
  • Deletion 4p: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Dennis-Fairhurst-Moore syndrome: A very rare lethal syndrome characterized mainly by dwarfism, characteristic facial features, small eyes and reduced hair.
  • Developmental problems: Physical or mental development difficulty.
  • Diabetes mellitus, permanent neonatal -- pancreatic and cerebellar agenesis: A rare syndrome characterized by the abnormal development of the cerebellum and pancreas which results in diabetes mellitus.
  • Dup (1) (q25-qter) and del (18p): A very rare chromosomal disorder (single reported case) where the end portion of the long arm (q25-qter) of chromosome one is duplicated and the short arm of chromosome 18 is missing.
  • Dup (2) (q34-qter): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in the few reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup (3) (pter-p24) and del (4) (pter-p16): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in six reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Duplication 7p: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
  • Duplication 8q: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
  • Face symptoms: Symptoms affecting the face
  • Fontaine-Farriaux-Blanckaert syndrome: A rare syndrome characterized by premature fusion of skull bones as well as various other abnormalities.
  • Fraser-like syndrome: A very rare syndrome characterized by fused eyelids, airway anomalies, cysts in the ovaries and finger and toe abnormalities.
  • Glass chapman hockley syndrome de: A rare syndrome characterized mainly by short fingers, facial anomalies and premature fusion of skull bones giving the head an abnormal shape.
  • Glass-Chapman-Hockley syndrome: A rare syndrome characterized mainly by short fingers, facial anomalies and premature fusion of skull bones giving the head an abnormal shape.
  • Goldblatt-Wallis syndrome: A very rare syndrome characterized by mental retardation and an abnormally placed urethral opening in males.
  • Guizar-Vasquez-Sanchez-Manzano syndrome: A rare syndrome characterized by loose joints, chest deformity and unusual facial appearance.
  • Hallermann-Streiff Syndrome: A condition which affects stature, head shape and hair growth
  • Head symptoms: Symptoms affecting the head or brain
  • Herrmann-Opitz craniosynostosi: A very rare syndrome characterized mainly by mental retardation, skeletal abnormalities and an unusual facial appearance.
  • Hypoparathyroidism -- short stature -- mental retardation: A very rare syndrome characterized mainly by low parathyroid hormone level, short stature and mental retardation.
  • IBIDS syndrome: A rare inherited skin disorder characterized by red, dry, scaly skin (I - ichthyosis), brittle hair (B), impaired physical and mental development (I), decreased fertility (D) and short stature (S). It is the same as PIBIDS syndrome but doesn't involve photosensitivity.
  • Impossible syndrome: A very rare syndrome (only one reported case) characterized a range of severe malformations, premature birth and stillbirth.
  • Infantile spasms -- broad thumbs: A very rare syndrome characterized mainly by spasms during infancy and broad thumbs.
  • Iris coloboma, macrocephaly, agenesis of the corpus callosum, brachydactyly and mental retardation: A rare syndrome characterized mainly by a small head, brain anomaly, short digits, mental retardation and an eye defect.
  • Jones-Hersh-Yusk syndrome: A rare congenital disorder characterized by missing toes, cleft palate, blistered skin and absent patches of skin at birth.
  • Kalam-Hafeez syndrome: A rare disorder characterized by low parathyroid levels in infants, retarded growth, mental retardation, dysmorphic features and seizures.
  • Kleeblattschaedel syndrome: A very rare syndrome characterized mainly by a head the is somewhat cloverleaf shaped.
  • Lindstrom syndrome: A rare disorder characterized by mental retardation, facial anomalies, short stature and seizures.
  • Lobstein disease: A group of rare inherited diseases that involves fragile bones. There are many different types based on the severity and extent of symptoms. Some types are severe enough to cause stillbirth or infant death whereas other types may cause few if any problematic symptoms.
  • Long thumb brachydactyly, maxillary hypoplasia, mental retardation and unusual facies: A rare syndrome characterized by short stature, short digits, underdeveloped upper jaw, mental retardation and an unusual facial appearance.
  • Lowry-Maclean syndrome: A very rare syndrome characterized mainly by mental retardation, retarded growth, glaucoma, congenital heart defects and premature fusion of skull bones.
  • Mandibuloacral dysplasia: A very rare syndrome characterized mainly by a prematurely aged appearance and bone abnormalities. There are two subtypes with type B involving loss of fat layers under the skin mainly in the extremities, face and trunk whereas type A involves mainly the extremities. The severity of the symptoms is variable.
  • Mandibuloacral dysplasia with type A lipodystrophy: A very rare syndrome characterized mainly by a prematurely aged appearance and bone abnormalities. Loss of fat layers under the skin occurs mainly in the extremities in type B. The severity of the symptoms is variable.
  • Mandibuloacral dysplasia with type B lipodystrophy: A very rare syndrome characterized mainly by a prematurely aged appearance and bone abnormalities. Loss of fat layers under the skin occurs mainly in the extremities, face and trunk in type B. The severity of the symptoms is variable.
  • Marden-Walker-like syndrome: A very rare syndrome characterized mainly by long, thin fingers, contractures from birth and narrow eye slits.
  • Maroteaux-Fonfria syndrome: A rare congenital disorder characterized by extra little fingers and extra big toes as well as the normal features associated with Apert syndrome.
  • Megarbane syndrome: A very rare disorder characterized by short stature, loose joints, hernias, facial abnormalities and severe psychomotor retardation.
  • Mental retardation -- arachnodactyly -- hypotonia -- telangiectasia: A very rare syndrome characterized mainly by mental retardation, short fingers, reduced muscle tone and spider veins (telangiectasia).
  • 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.
  • 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 dysplasia -- maxillary hypoplasia -- brachydactyly: A very rare syndrome characterized mainly by short fingers, underdeveloped upper jaw and bone abnormalities involving the cone-shaped portion near the end of the bones where growth occurs.
  • Microcephalic osteodysplastic dysplasia, Saul-Wilson type: A rare skeletal disorder characterized by various abnormalities including short stature, short digits, cataracts and small head.
  • Microcephalic osteodysplastic primordial dwarfism, type 2: A very rare syndrome characterized mainly by growth problems before and after birth as well as various skeletal and facial anomalies.
  • Microcephaly -- cervical spine fusion anomalies: A very rare syndrome characterized mainly by a small head and fused neck vertebrae.
  • Microcephaly immunodeficiency lymphoreticuloma: A very rare syndrome characterized mainly by a small head, reduced immunity and increased risk of cancer. There are a wide range of other abnormalities and symptoms that can occur.
  • Milner-Khallouf-Gibson syndrome: A rare recessively inherited genetic disorder characterized by a variety of symptoms which are typical of a condition called Fanconi's anemia.
  • Mouth symptoms: Symptoms of the mouth or oral area.
  • Nijemegen Breakage Syndrome:
  • Nijmegen Breakage Syndrome: A very rare syndrome characterized mainly by a small head, reduced immunity and increased risk of cancer. There are a wide range of other abnormalities and symptoms that can occur.
  • Nose conditions: Any condition that affects the nose
  • Nose symptoms: Symptoms affecting the nose
  • PIBIDS syndrome: A rare inherited skin disorder characterized by photosensitivity (P), red, dry, scaly skin (I - ichthyosis), brittle hair (B), impaired physical and mental development (I), decreased fertility (D) and short stature (S). It is the same as IBIDS syndrome but involves photosensitivity.
  • Peptidic growth factors deficiency: A very rare syndrome characterized mainly by diabetes, skin abnormalities, small jaw and muscle contractures.
  • Pfeiffer Syndrome Type I: A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity. Type I is the mildest of the three Pfeiffer Syndrome subtypes.
  • Pfeiffer syndrome: A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity.
  • Pitt-Hopkins syndrome: A very rare syndrome characterized mainly by mental retardation with periods of overbreathing and apnea.
  • Potter syndrome: A congenital condition involving absence of kidneys resulting in decreased amniotic fluid and compression of the fetus. The affected baby has leg deformities, poorly developed lungs and a wrinkled, flattened facial appearance and often don't survive.
  • Pseudoprogeria syndrome: A very rare syndrome characterized mainly by absent eyelashes and eyebrows as well a mental retardation.
  • Radio renal syndrome: A very rare syndrome characterized mainly by kidney, forearm and and thumb abnormalities.
  • Renal dysplasia -- limb defects syndrome: A very rare syndrome characterized mainly by abnormal kidney development and various arm bone defects.
  • Respiratory symptoms: Symptoms affecting the breathing systems.
  • Rubinstein-Taybi Syndrome: A rare congenital disorder characterized by very small stature, broad thumbs and toes, slanted palpebral fissures and hypoplastic maxilla.
  • Rubinstein-Taybi like syndrome: A condition characterized by numerous congenital abnormalities including small head, unusual facial features, short stature, broad thumb and big toe and mental retardation.
  • Ruvalcaba syndrome: A very rare disorder characterized by short stature, skeletal abnormalities, mental retardation and distinctive facial features.
  • Saethre-Chotzen Syndrome: A rare genetic disorder characterized by premature joining of certain skull bones during development which has an impact on the shape of the head and face. Features include brachycephaly, ear deformities as well as craniofacial, finger and bone abnormalities.
  • Say-Barber-Miller syndrome: A very rare syndrome characterized mainly by immune system problems and a small head.
  • Seckel syndrome: A rare condition characterized by fetal and postnatal growth retardation, mental retardation and characteristic facial features.
  • Seckel-like syndrome, Majoor-Krakauer type: A very rare syndrome characterized by numerous abnormalities including poor fetal growth, reduced amniotic fluid and heart, brain spleen and kidney anomalies.
  • Seckel-like syndrome, type Buebel: A rare syndrome characterized by dwarfism and other abnormalities characteristic of Seckel syndrome as well as hand and foot anomalies.
  • Short stature cranial hyperostosis hepatomegaly diabetes: A very rare syndrome characterized mainly by enlarged liver, diabetes, short stature and a thickened skull.
  • Short stature, cranial hyperostosis, hepatomegaly and diabetes: A very rare syndrome characterized mainly by enlarged liver, diabetes, short stature and a thickened skull.
  • Skeletal symptoms: Symptoms affecting the skeletal system such as the bones.
  • Skull symptoms: Symptoms affecting the skull surrounding the brain.
  • Temtamy syndrome: A rare disorder characterized by a brain abnormality, unusual facial appearance and eye coloboma.
  • Tetraploidy: A very rare chromosomal disorder which results in various abnormalities. Infants are usually stillborn or die within months of birth.
  • Throat symptoms: Symptoms affecting the throat
  • Trigonocephaly -- broad thumbs: A rare syndrome characterized mainly by broad thumbs and a prominent triangular shaped forehead.
  • Tsao-Ellingson syndrome: A very rare syndrome characterized mainly by spasms during infancy and broad thumbs.
  • Urophathy distal obstructive polydactyly: A rare syndrome characterized by extra digits and an obstructive urinary system disorder.
  • Verloes-David Syndrome: An inherited condition characterised by shortness of stature and multiple skeletal abnormalities.
  • Werner syndrome: A form of premature aging where sufferers start aging during adolescence or soon after and appear old by the time they reach their 30's or 40's. Milder forms of the condition may also occur.

Conditions listing medical symptoms: Beaked nose:

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