Microphthalmia with linear skin defects syndrome

Orpha code: 2556OMIM code: 309801

Definition

A rare X-linked, syndromic eye disorder characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy.

Disease data
Classification

Malformation syndrome

Synonyms
MCOPS7
MCOPS7
Mikroftalmia - aplazja skóry - sclerocornea
Syndromiczna mikroftalmia typu 7
Zespół MIDAS
Zespół MLS
MIDAS syndrome
MLS syndrome
Microphthalmia-dermal aplasia-sclerocornea syndrome
Syndromic microphthalmia type 7
ORPHA code
2556
OMIM code
309801
ICD10 code
Q11.2
ICD11 code
LD21.0

No additional description.

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