Anophthalmia megalocornea cardiopathy skeletal anomalies syndrome

Anophthalmia megalocornea cardiopathy skeletal anomalies syndrome
Other names	None.
Specialty	Medical genetics
Symptoms	ocular, muscular, heart and skeletal anomalies
Complications	Blindness, death, bullying
Usual onset	Birth
Duration	Life-long
Causes	Autosomal recessive inheritance
Diagnostic method	Physical examination
Prevention	none
Frequency	Very rare

Anophthalmia megalocornea cardiopathy skeletal anomalies syndrome is an extremely rare multi-systemic genetic disorder which is characterized by congenital ocular, muscular, and heart abnormalities. It was first described in the children of a consanguineous couple, and it is thought to be autosomal recessive disorder with variable expressity. No new cases have been described in medical literature since 1992.

Presentation

People with this disorder usually have the following symptoms: dolichocephaly, asymmetrical skull, camptodactyly, talipes equinovarus, muscular hypoplasia, anophthalmia, buphthalmos, retinal detachment, aniridia, tricuspid valve prolapse, and mitral and tricuspid deficiency.