Total 48 clinical symptoms reported for Acrocephalosyndactyly
Acrobrachycephaly |
An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures.
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Very frequent |
Brachyturricephaly |
Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region.
Synonyms:Brachy-turricephaly; High, prominent forehead; Turribrachycephaly |
Very frequent |
Broad forehead |
Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.
Synonyms:Bitemporal widening; Broad forehead; Increased bitemporal dimension; Increased bitemporal width; Increased width of the forehead; Intertemporal widening; Wide forehead |
Very frequent |
Conductive hearing impairment |
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
Synonyms:Conduction deafness; Conductive deafness; Conductive hearing loss; Hearing loss, conductive |
Very frequent |
Depressed nasal bridge |
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Synonyms:Depressed bridge of nose; Depressed nasal bridge; Depressed nasal root; Flat bridge of nose; Flat nasal bridge; Flat nasal root; Flat, nasal bridge; Flattened nasal bridge; Low nasal bridge; Low nasal root; Retruded bridge of nose; Retruded nasal bridge |
Very frequent |
Finger syndactyly |
Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as 'bony' Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as 'Symphalangism'.
Synonyms:Partial syndactyly |
Very frequent |
Flat face |
Absence of concavity or convexity of the face when viewed in profile.
Synonyms:Flat face; Flat facial profile; Flat facial shape; Flat facies |
Very frequent |
Frontal bossing |
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Synonyms:Frontal protruberance; Skull bossing |
Very frequent |
Hypoplasia of the maxilla |
Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.
Synonyms:Decreased size of maxilla; Decreased size of upper jaw; Hypoplasia of upper jaw bones; Hypoplastic maxillary bones; Maxillary deficiency; Maxillary hypoplasia; Maxillary micrognathia; Maxillary retrognathia; Maxillary retrusion; Micromaxilla; Small maxilla; Small upper jaw; Small upper jaw bones; Upper jaw deficiency; Upper jaw retrusion |
Very frequent |
Proptosis |
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
Synonyms:Anterior bulging of the globe; Anterior bulging of the globe of eye; Bulging eye; Exophthalmos; Eyeballs bulging out; Ocular proptosis; Prominent eyes; Prominent globes; Protruding eyes; Protrusio bulbi |
Very frequent |
Toe syndactyly |
Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as 'bony' Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as 'Symphalangism'.
Synonyms:Foot syndactyly; Fused toes; Syndactyly of feet; Syndactyly of toes; Webbed toes |
Very frequent |