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diaphragmatic defect-limb deficiency-skull defect syndrome

MeSH: C563380ORPHA: 2141

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 diaphragmatic defect-limb deficiency-skull defect syndrome, sourced from HPO and Orphanet clinical annotations.

Abnormal morphology of female internal genitaliaCongenital diaphragmatic herniaAbnormal scapula morphologyOmphalocelePulmonary hypoplasiaAbnormality of the lower limbAbnormality of the upper limbAbnormal femur morphologyClinodactyly of the 5th fingerDecreased skull ossificationFinger syndactylyAplasia/Hypoplasia of the fibulaAplasia/Hypoplasia of the ulnaAplasia/Hypoplasia of the radiusAplasia/hypoplasia of the humerusUpper limb asymmetry

Classification & Codes

MeSH Code

C563380

Orphanet Code

ORPHA:2141
diaphragmatic defect-limb deficiency-skull defect syndrome
MeSHC563380
OrphanetORPHA:2141
Treatments0 drug(s)
Symptoms on record16 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO