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macrosomia-microphthalmia-cleft palate syndrome

Disease Summary
Associated Targets (0)

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Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0009547:  macrosomia-microphthalmia-cleft palate syndrome
GARD:0000177: 
MESH:C537830: 
Orphanet:2432: 
UMLS:C1855467: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found