Anophthalmia megalocornea cardiopathy skeletal anomalies syndrome
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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]
| Anophthalmia megalocornea cardiopathy skeletal anomalies syndrome | |
|---|---|
| Other names | None.[1] |
| 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 |
Presentation
editPeople 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]
Diagnosis
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References
edit- ^ "Anophthalmia megalocornea cardiopathy skeletal anomalies". 16 June 2022.
- ^ "Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome". DoveMed. Retrieved 2022-05-19.
- ^ "Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome (Concept Id: C4304035)- MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-05-19.
- ^ "Orphanet: Anophthalmia megalocornea cardiopathy skeletal anomalies syndrome". www.orpha.net. Retrieved 2022-05-19.
- ^ "Anophthalmia megalocornea cardiopathy skeletal anomalies - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-19.