External auditory canal atresia-vertical talus-hypertelorism syndrome

Orpha code: 3023OMIM code: 133705

Definition

A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance.

Disease data
Classification

Malformation syndrome

Synonyms
Rasmussen-Johnsen-Thomsen syndrome
ORPHA code
3023
OMIM code
133705
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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