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GTR Home > Conditions/Phenotypes > Coxopodopatellar syndrome

Coxopodopatellar syndrome

Synonyms
Congenital coxa vara, patella aplasia and tarsal synostosis; ISCHIOCOXOPODOPATELLAR SYNDROME; ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIAL HYPERTENSION; Ischiopatellar dysplasia; PATELLA APLASIA, COXA VARA, AND TARSAL SYNOSTOSIS; Patella aplasia, coxa vara, tarsal synostosis; Scott-Taor syndrome; Small patella syndrome
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Ischiocoxopodopatellar syndrome (ICPPS) is a rare autosomal dominant disorder characterized by a/hypoplasia of the patellas and various anomalies of the pelvis and feet. Pelvic anomalies include bilateral absent or delayed ossification of the ischiopubic junction and infraacetabular axe cut notches. Other major signs are a wide gap between the first and second toes, short fourth and fifth rays of the feet, and pes planus (summary by Bongers et al., 2001). Pediatric-onset pulmonary arterial hypertension may be seen in association with ICPPS (Kerstjens-Frederikse et al., 2013 and Levy et al., 2016). [from OMIM]

Available tests

16 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (16 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

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

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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