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craniofacial-deafness-hand syndrome

MeSH: C536453ORPHA: 1529

Contents

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

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 craniofacial-deafness-hand syndrome, sourced from HPO and Orphanet clinical annotations.

Narrow mouthNarrow faceHypertelorismHypoplasia of the maxillaSensorineural hearing impairmentDepressed nasal ridgeDownslanted palpebral fissuresLacrimal duct atresiaBlepharophimosisAbnormality of the wristUlnar deviation of the wristShort noseDepressed nasal bridgeUlnar deviation of fingerAplasia/Hypoplasia involving the noseFlat faceCamptodactyly of finger

Classification & Codes

MeSH Code

C536453

Orphanet Code

ORPHA:1529
craniofacial-deafness-hand syndrome
MeSHC536453
OrphanetORPHA:1529
Treatments0 drug(s)
Symptoms on record17 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO