Aplasia cutis-myopia syndrome

Orpha code: 1117OMIM code: 601075

Definition

A rare disorder characterised by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant.

Disease data
Classification

Disease

Synonyms
Gershoni-Baruch-Leibo syndrome
Zespół Gershoni, Baruchi i Leibo
ORPHA code
1117
OMIM code
601075
ICD10 code
Q84.8
ICD11 code
LD27.Y

No additional description.

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