Deafness-craniofacial syndrome

Orpha code: 3241OMIM code: 125230

Definition

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
Classification

Malformation syndrome

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

No additional description.

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