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thumb deformity-alopecia-pigmentation anomaly syndrome

MeSH: C536904ORPHA: 2251

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

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 thumb deformity-alopecia-pigmentation anomaly syndrome, sourced from HPO and Orphanet clinical annotations.

AphasiaHyperpigmentation of the skinAlopeciaSevere short statureSparse hairShort thumbEverted lower lip vermilionProtruding earPalmoplantar keratodermaUrticariaHypopigmented skin patchesTriphalangeal thumbIntellectual disabilityGlobal developmental delaySpecific learning disabilityMutismAbnormal dental morphologyRidged fingernailEcholaliaOnychogryphosis of fingernailCamptodactyly of fingerFingernail dysplasiaFinger syndactyly

Classification & Codes

MeSH Code

C536904

Orphanet Code

ORPHA:2251
thumb deformity-alopecia-pigmentation anomaly syndrome
MeSHC536904
OrphanetORPHA:2251
Treatments0 drug(s)
Symptoms on record23 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
thumb deformity-alopecia-pigmentation anomaly syndrome | OrphanDrug