Ischiocoxopodopatellar Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** A rare autosomal dominant inherited syndrome that is caused by mutation(s) in the TBX4 gene, encoding T-box transcription factor TBX4. It is characterized by hypoplasia or aplasia of the patella and pelvic and foot anomalies.

**Synonyms:** - ICPPS - Ischiocoxopodopatellar Syndrome with or without Pulmonary Arterial Hypertension - SPS - Small Patella Syndrome