Macrosomia-microphthalmia-cleft palate syndrome

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Synonyms: Teebi-Al Saleh-Hassoon syndrome

Macrosomia-microphthalmia-cleft palate syndrome is a rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly large fontanelles prominent forehead upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989.

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 July 2024

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