Hallermann-Streiff syndrome

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Hallermann-Streiff syndrome2016-11-25T23:18:57+00:00

Hallermann-Streiff syndrome

GENETICS

An autosomal recessive disorder (OMIM:234100) characterised by a typical skull shape (brachycephaly with frontal bossing), microphthalmia, bird-like face, hypoplastic mandible, beaked nose, skin atrophy, dental anomalies, proportionate short stature (dwarfism), hypotrichosis, and cataracts, variably accompanied by mental retardation. 

Molecular pathology Whilst there is some phenotypic overlap with oculodentodigital dysplasia–which is caused by a defect of GJA1, a causative role of defective GJA1 has not been proven for Hallermann-Streiff syndrome.

Synonyms François’ dyscephalic syndrome, François syndrome, Hallermann syndrome, Hallermann-Streiff-François syndrome, mandibulo-ocular dyscephalia with hypotrichosis, mandibulo-oculofacial dyscephaly, mandibulo-oculofacial dysmorphia, mandibulo-oculofacial syndrome, oculomandibular dyscephaly, oculomandibulodyscephaly, oculomandibulodyscephaly with hypotrichosis, oculomandibulofacial syndrome  

References http://www.uniprot.org/uniprot/P17302

http://www.omim.org/entry/234100

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