ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1
MeSH: C536189ORPHA: 1896
Overview
EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3
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 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1, sourced from HPO and Orphanet clinical annotations.
Thick eyebrowLacrimation abnormalityCarious teethTaurodontiaAbnormal dental enamel morphologyMicrodontiaDry skinHyperkeratosisAbsent lacrimal punctumSplit handNail pitsSplit footCoarse hairNail dystrophyTooth agenesisSparse eyebrowEctrodactylyUrethral atresiaHydronephrosisOrofacial cleftKeratitisBlepharitisPhotophobiaDacryocystitisEctodermal dysplasiaKeratoconjunctivitisSlow-growing hairDuplication of hand bonesGeneralized hypopigmentationAplasia/Hypoplasia of the skinRenal hypoplasia/aplasiaOligodactylyInflammatory abnormality of the eyeCorneal erosionCleft lipHypospadiasVesicoureteral refluxCleft palateXerostomiaAbnormality of the inner earAbnormality of the middle earSensorineural hearing impairmentChoanal atresiaEntropionHypoplasia of the thymusDecreased response to growth hormone stimulation testAnterior hypopituitarismHypohidrosisIntellectual disabilityToe syndactylyFine hairLymphomaNevusShort statureFinger syndactylyAplasia/Hypoplasia of the nipplesSparse hairAplasia/Hypoplasia of the thumbProximal placement of thumbAplasia/Hypoplasia of the breastsAbnormal pinna morphology
Classification & Codes
MeSH Code
C536189Orphanet Code
ORPHA:1896ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1
| MeSH | C536189 |
| Orphanet | ORPHA:1896 |
| Treatments | 0 drug(s) |
| Symptoms on record | 61 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO