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pelvis-shoulder dysplasia

MeSH: C566811ORPHA: 2839

Contents

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

Overview

Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis

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 pelvis-shoulder dysplasia, sourced from HPO and Orphanet clinical annotations.

Multiple skeletal anomaliesAmbiguous genitaliaHydronephrosisMicroglossiaCleft palateHydrocephalusMicrognathiaAbnormal pinna morphologyRetinal colobomaMicrocorneaIris colobomaLong claviclesSyndactylyBell-shaped thoraxTalipes equinovarusHydranencephalySpina bifidaWaddling gaitLumbar hyperlordosisDislocated radial headHypoplastic pubic boneHypoplastic ischiaAbnormal form of the vertebral bodiesShort statureMesomelic/rhizomelic limb shorteningAplasia/hypoplasia of the femurFifth finger distal phalanx clinodactylyAbsent proximal finger flexion creasesAplasia/Hypoplasia of the fibulaAplasia/Hypoplasia of the claviclesAplasia/Hypoplasia of the ribsAplasia/Hypoplasia of the scapulaeBilateral microphthalmosProminent protruding coccyxMicrotiaAcetabular dysplasiaNeonatal short-trunk short statureThick anterior alveolar ridgesFacial hirsutismShort palpebral fissureCamptodactyly of finger

Classification & Codes

MeSH Code

C566811

Orphanet Code

ORPHA:2839
pelvis-shoulder dysplasia
MeSHC566811
OrphanetORPHA:2839
Treatments0 drug(s)
Symptoms on record41 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO