Oculootodental syndrome

Orpha code: 99806OMIM code: 166750

Definition

A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy.

Disease data
Classification

Malformation syndrome

Synonyms
OOD
OOD
ORPHA code
99806
OMIM code
166750
ICD10 code
K07.8
ICD11 code
-

No additional description.

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