ablepharon macrostomia syndrome
MeSH: C535557ORPHA: 920
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 ablepharon macrostomia syndrome, sourced from HPO and Orphanet clinical annotations.
Abnormal female external genitalia morphologyAmbiguous genitaliaWide mouthThin vermilion borderHypoplasia of the maxillaHearing impairmentAtresia of the external auditory canalUnderdeveloped nasal alaeAnteverted naresVisual impairmentMyopiaAbsent eyelashesMicrodontiaDelayed speech and language developmentDry skinThin skinAbnormality of skin pigmentationCryptophthalmosGlobal developmental delayGrowth delayUmbilical herniaOmphaloceleRedundant skinToe syndactylyFine hairAbsent eyebrowBreast hypoplasiaDepressed nasal bridgeAplasia/Hypoplasia of the nipplesExcessive wrinkled skinCorneal opacitySparse hairMicrotiaHypoplasia of penisHypoplasia of the zygomatic boneAbnormal hair patternAblepharonCamptodactyly of fingerCorneal erosion
Classification & Codes
MeSH Code
C535557Orphanet Code
ORPHA:920ablepharon macrostomia syndrome
| MeSH | C535557 |
| Orphanet | ORPHA:920 |
| Treatments | 0 drug(s) |
| Symptoms on record | 39 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO