OrphanDrug
OrphanDrug
Pharma Knowledge Base

46,XX disorder of sex development-skeletal anomalies syndrome

MeSH: C564869ORPHA: 2975

Contents

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

Overview

.). It has been described in two sisters born to consanguineous parents.

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 46,XX disorder of sex development-skeletal anomalies syndrome, sourced from HPO and Orphanet clinical annotations.

Ambiguous genitalia, femaleFused labia minoraMicrognathiaPrimary amenorrheaDislocated radial headDeformed humerusMandibular condyle hypoplasiaHypoplasia of the premaxillaIncreased size of the clitoris

Classification & Codes

MeSH Code

C564869

Orphanet Code

ORPHA:2975
46,XX disorder of sex development-skeletal anomalies syndrome
MeSHC564869
OrphanetORPHA:2975
Treatments0 drug(s)
Symptoms on record9 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO