| Anophthalmia megalocornea cardiopathy skeletal anomalies syndrome | |
| Synonyms: | None.[1] |
| Specialty: | Medical genetics |
| Symptoms: | ocular, muscular, heart and skeletal anomalies |
| Complications: | Blindness, death, bullying |
| Onset: | Birth |
| Duration: | Life-long |
| Causes: | Autosomal recessive inheritance |
| Diagnosis: | Physical examination |
| Prevention: | none |
| Management: | --> |
| 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,[2] and it is thought to be autosomal recessive disorder with variable expressity.[3] No new cases have been described in medical literature since 1992.[4] __TOC__
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.[5]