anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
ORPHA: 1101
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome, sourced from HPO and Orphanet clinical annotations.
Inguinal herniaCryptorchidismDolichocephalyMandibular prognathiaHypoplasia of the maxillaLong philtrumMegalocorneaAniridiaAnophthalmiaMyopiaAbnormal optic nerve morphologyAbnormality of the earPectus excavatumCorneal dystrophyPlagiocephalyUmbilical herniaMitral regurgitationTricuspid valve prolapseTalipes equinovarusScoliosisHigh, narrow palateAbnormal vitreous humor morphologyTricuspid regurgitationHypoplasia of the musculatureUlnar deviation of fingerAbnormal cardiovascular system morphologyCamptodactyly of fingerAbnormal size of the palpebral fissures
Classification & Codes
Orphanet Code
ORPHA:1101anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
| Orphanet | ORPHA:1101 |
| Treatments | 0 drug(s) |
| Symptoms on record | 28 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO