Deafness-craniofacial syndrome

Orpha code: 3241OMIM code: 125230

Definicja

Deafness-craniofacial syndrome is characterised by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Hearing loss-craniofacial syndrome
Kod ORPHA
3241
Kod OMIM
125230
Kod ICD10
Q87.0
Kod ICD11
LD2H.Y

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl