Microcephaly-cleft palate-abnormal retinal pigmentation syndrome

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Microcephaly-cleft palate-abnormal retinal pigmentation syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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