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phocomelia, Schinzel type

MeSH: C535612ORPHA: 2879

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 phocomelia, Schinzel type, sourced from HPO and Orphanet clinical annotations.

Finger aplasiaFoot oligodactylyNail dysplasiaMicromeliaFibular aplasiaAbnormal tibia morphologyDisproportionate short statureAplasia of the ulnaBowing of the long bonesAplasia/Hypoplasia of the sacrumAplasia/Hypoplasia involving the pelvisEctrodactylyAplasia of the uterusMicrognathiaShort neckIntrauterine growth retardationHypoplasia of the radiusRadial bowingCryptorchidismCleft palateProtruding earCalvarial skull defectHydrops fetalisTalipesAnal atresiaMeningoceleTracheoesophageal fistulaHigh, narrow palateHumeroradial synostosisShort noseHypoplasia of penis

Classification & Codes

MeSH Code

C535612

Orphanet Code

ORPHA:2879
phocomelia, Schinzel type
MeSHC535612
OrphanetORPHA:2879
Treatments0 drug(s)
Symptoms on record31 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO