Microcephaly-cleft palate-abnormal retinal pigmentation syndrome

Orpha code: 2521OMIM code:

Definicja

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
Klasyfikacja

Malformation syndrome

Synonimy
Zespół Halal
Kod ORPHA
2521
Kod OMIM
-
Kod ICD10
Q87.8
Kod ICD11
-

No additional description.

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