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deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome

MeSH: C537887ORPHA: 3224

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 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome, sourced from HPO and Orphanet clinical annotations.

HypospadiasFacial asymmetryPosteriorly rotated earsLow-set earsSensorineural hearing impairmentProtruding earIntellectual disabilityCerebellar hypoplasiaPes cavusVentriculomegalyCerebral cortical atrophyAbnormal cerebellar vermis morphologyAbnormal nasal morphologyAbnormal metacarpal morphologyAbnormal dermatoglyphicsProminent foreheadAbnormality of the dentitionEpicanthusHypertelorismAbnormal corpus callosum morphologyAlopeciaToe syndactylyTruncal obesityAbnormal speech patternSupernumerary nippleAbnormal vertebral morphologyFinger syndactylyShort hallux

Classification & Codes

MeSH Code

C537887

Orphanet Code

ORPHA:3224
deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
MeSHC537887
OrphanetORPHA:3224
Treatments0 drug(s)
Symptoms on record28 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO