ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
MeSH: C535289ORPHA: 1071
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 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, sourced from HPO and Orphanet clinical annotations.
Conductive hearing impairmentWide nasal bridgeHypohidrosisHyperconvex nailDystrophic toenailHyperconvex fingernailsCoarse hairSparse hairDystrophic fingernailsAnkyloblepharonNon-midline cleft of the upper lipCleft palateSubmucous cleft hard palateMicrognathiaSparse eyelashesHypodontiaAbnormal dental enamel morphologyWidely spaced teethConical toothPalmoplantar keratodermaGeneralized hyperpigmentationSubmucous cleft soft palateSparse eyebrowProtruding earDelayed eruption of teethAbsent lacrimal punctumAbnormality of the voiceVentricular septal defectSupernumerary nippleClinodactyly of the 5th fingerFinger syndactyly
Classification & Codes
MeSH Code
C535289Orphanet Code
ORPHA:1071ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
| MeSH | C535289 |
| Orphanet | ORPHA:1071 |
| Treatments | 0 drug(s) |
| Symptoms on record | 31 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO