intellectual disability-polydactyly-uncombable hair syndrome

MeSH: C537615ORPHA: 3082

Overview

medical condition

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 intellectual disability-polydactyly-uncombable hair syndrome, sourced from HPO and Orphanet clinical annotations.

CryptorchidismAbnormal palate morphologyMandibular prognathiaMicrognathiaConductive hearing impairmentNarrow nasal bridgeShort neckUpslanted palpebral fissureHypotelorismPectus carinatumAbnormal rib morphologyPostaxial hand polydactylyIntellectual disabilityAbnormal hair morphologyToe syndactylyAplasia/Hypoplasia of toeFrontal bossingSlow-growing hairKyphosisClinodactyly of the 5th fingerHernia of the abdominal wallShort statureAbnormal epiphysis morphologyAplasia/Hypoplasia of fingersWide intermamillary distanceHypoplasia of penisAbnormal antihelix morphologyAbnormal antitragus morphologyAplasia/Hypoplasia of the earlobesBroad hallux phalanxMetatarsus valgusAbnormality of immune system physiologyUncombable hairAplasia/Hypoplasia of the eyebrow

Classification & Codes

MeSH Code

C537615

Orphanet Code

ORPHA:3082
intellectual disability-polydactyly-uncombable hair syndrome
MeSHC537615
OrphanetORPHA:3082
Treatments0 drug(s)
Symptoms on record34 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO