Microcephaly-cleft palate-abnormal retinal pigmentation syndrome

Orpha code: 2521OMIM code:

Definition

Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983.

Disease data
Classification

Malformation syndrome

Synonyms
Zespół Halal
ORPHA code
2521
OMIM code
-
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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