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chondrodysplasia-pseudohermaphroditism syndrome

MeSH: C536123ORPHA: 1422

Contents

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

Overview

syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia

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 chondrodysplasia-pseudohermaphroditism syndrome, sourced from HPO and Orphanet clinical annotations.

MicrocephalyMacrotiaTelecanthusNarrow chestIntellectual disabilityIntrauterine growth retardationAbnormal pelvic girdle bone morphologyMicromeliaAbnormal shoulder morphologySevere short statureIncreased skull ossificationBroad long bonesShort phalanx of fingerShort metacarpalMale pseudohermaphroditismStrabismusDeeply set eyeChorioretinal colobomaBlepharophimosisMiosisCerebral hypoplasiaHypoplasia of the iris

Classification & Codes

MeSH Code

C536123

Orphanet Code

ORPHA:1422
chondrodysplasia-pseudohermaphroditism syndrome
MeSHC536123
OrphanetORPHA:1422
Treatments0 drug(s)
Symptoms on record22 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO