cleft lip-palate-ectodermal dysplasia syndrome

MeSH: C536726ORPHA: 3253

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 cleft lip-palate-ectodermal dysplasia syndrome, sourced from HPO and Orphanet clinical annotations.

Small scrotumAbnormality of the ureterHypogonadismAbnormality of the dentitionCleft upper lipMicrognathiaMacrotiaProtruding earWide nasal bridgeDownslanted palpebral fissuresSynophrysHypodontiaCarious teethAnodontiaAbnormal dental enamel morphologyHypohidrosisEctodermal dysplasiaPalmoplantar hyperkeratosisIntellectual disabilitySeizureAlopeciaToe syndactylyDystrophic toenailAbnormal speech patternRecurrent respiratory infectionsEEG abnormalityHighly arched eyebrowHyperlordosisPili tortiSparse lateral eyebrowFinger syndactylyAbnormal dental morphologyWide intermamillary distanceAbnormal dermatoglyphicsBilateral single transverse palmar creasesSparse hairDystrophic fingernailsNail dystrophyHypoplasia of the zygomatic boneMidface retrusionAplasia/Hypoplasia of the eyebrow

Classification & Codes

MeSH Code

C536726

Orphanet Code

ORPHA:3253
cleft lip-palate-ectodermal dysplasia syndrome
MeSHC536726
OrphanetORPHA:3253
Treatments0 drug(s)
Symptoms on record41 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO