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anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome is a multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992.
Mondo Term and Equivalent IDs
MONDO:0015230:  anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
GARD:0000717: 
Orphanet:1101: 
SCTID:720495005: 
UMLS:CN197570: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found