Autosomal recessive amelia

Summary

Posterior amelia with pelvic and pulmonary hypoplasia syndrome (PAPPAS) is characterized by absent lower limbs, severely hypoplastic or absent pelvic bones, and hypoplasia of the sacrum, as well as hypoplasia of the lungs with pulmonary segmentation defect. Ambiguous genitalia have also been observed (Kariminejad et al., 2019). Heterozygous mutation in the TBX4 gene causes ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension (ICPPS; 147891). [from OMIM]

Available tests

9 tests are in the database for this condition.

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Clinical tests (9 available)

Molecular Genetics Tests

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Associated genes Help
Genes reported to contribute to the condition.

TBX4
37 tests
Also known as: ICPPS, PAPPAS, SPS, TBX4
Summary: T-box transcription factor 4

Imported from Human Phenotype Ontology (HPO)

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Abnormality of limbs
- Amelia
  Amelia
  - MedGen UID: 8014
  - Concept ID: C0002447
  - Finding: Congenital Abnormality
  Abnormality of limbs
  See: Feature record | Search on this feature

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