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Hallermann-Streiff syndrome

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases.
Uniprot Description A disorder characterized by a typical skull shape (brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies and proportionate short stature. Mental retardation is present in a minority of cases.
Disease Ontology Description A syndrome that affects growth, cranial development, hair growth and dental development.
Mondo Term and Equivalent IDs
MONDO:0009318:  Hallermann-Streiff syndrome
GARD:0000288: 
MESH:D006210: 
NCIT:C84746: 
Orphanet:2108: 
SCTID:7903009: 
UMLS:C0018522: