anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
Findings
No curated finding names anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0015230), read 2026-09-29. CC BY 4.0.
Features
28 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Frequent (30% to 79% of cases)
- Abnormal optic nerve morphologyHPOHP:0000587
- Frequent (30% to 79% of cases)
- Abnormal size of the palpebral fissuresHPOHP:0200007
- Frequent (30% to 79% of cases)
- Abnormal vitreous humor morphologyHPOHP:0004327
- Frequent (30% to 79% of cases)
- Abnormality of the earHPOHP:0000598
- Frequent (30% to 79% of cases)
- AniridiaHPOHP:0000526
- Frequent (30% to 79% of cases)
Show the remaining 16
- Hypoplasia of the maxillaHPOHP:0000327
- Frequent (30% to 79% of cases)
- Hypoplasia of the musculatureHPOHP:0009004
- Frequent (30% to 79% of cases)
- Inguinal herniaHPOHP:0000023
- Frequent (30% to 79% of cases)
- Long philtrumHPOHP:0000343
- Frequent (30% to 79% of cases)
- Mandibular prognathiaHPOHP:0000303
- Frequent (30% to 79% of cases)
- MegalocorneaHPOHP:0000485
- Frequent (30% to 79% of cases)
Where it sits
Other names
2 names
Resolves to: anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
- Also called
- anophthalmia megalocornea cardiopathy skeletal anomaliesCassia Stocco dos Santos syndrome