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Multiple pterygium syndrome

DA: 459

Developmental anomaly information

Definition: Multiple pterygium syndrome is a very rare genetic disorder characterized by short stature, abnormal facies and webbing of the neck, antecubital, digital, popliteal, and intercural areas. Joint contractures, vertebral fusion defects, and rocker-bottom feet are usually associated."


  • Pterygium colli syndrome
  • Escobar syndrome

Developmental anomaly parent: (empty)

Topology: Human body

System: Human body

Developmental anomaly category: Malformation Syndrome (malformative syndrome)

Case records MDB392
Observed in MDB cases
Observed in combinaisons (MDB)
Observed in malformative diseases (MDB)
Associated genes in profile
Associated genes in malformative diseases
Associated chromosomal diseases
Associated signaling pathways
Associated developmental anomalies

Here is the list of developmental anomalies associated with this developmental anomaly, based on the cases' information :

Last modified: 2008-12-22 18:18:05 by farideh

Created: 2008-07-24 23:58:38 by farideh

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