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platyspondylic lethal skeletal dysplasia, Torrance type

MeSH: C563627ORPHA: 85166

Contents

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

Overview

although generally lethal, survival to adulthood has been reported in two families

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 platyspondylic lethal skeletal dysplasia, Torrance type, sourced from HPO and Orphanet clinical annotations.

Narrow chestPlatyspondylyAbnormal carpal morphologyShort footSkeletal dysplasiaMicromeliaMetaphyseal cuppingHypoplasia of the capital femoral epiphysisAbdominal distentionShort palmBowing of the long bonesHypoplastic pelvisDisproportionate short-limb short statureShort distal phalanx of fingerShort thoraxMalar flatteningLow-set earsHypoplastic scapulaePolyhydramniosHydrops fetalisPulmonary hypoplasiaGenu varumDepressed nasal bridgeProminent foreheadCleft palate

Classification & Codes

MeSH Code

C563627

Orphanet Code

ORPHA:85166
platyspondylic lethal skeletal dysplasia, Torrance type
MeSHC563627
OrphanetORPHA:85166
Treatments0 drug(s)
Symptoms on record25 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO