genitopatellar syndrome
Findings
No curated finding names genitopatellar syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.
Definition from the Mondo Disease Ontology (MONDO:0011640), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
50 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- CryptorchidismHPOHP:0000028
- 12 of 12 reported patients
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- 16 of 16 reported patients
- Very frequent (80% to 99% of cases)
- Labial hypoplasiaHPOHP:0000066
- 6 of 6 reported patients
- MicrocephalyHPOHP:0000252
- 19 of 19 reported patients
- Very frequent (80% to 99% of cases)
- Small scrotumHPOHP:0000046
- 12 of 12 reported patients
- Very frequent (80% to 99% of cases)
- Patellar aplasiaHPOHP:0006443
Show the remaining 38
- Hypoplastic iliaHPOHP:0000946
- Very frequent (80% to 99% of cases)
- Hypoplastic ischiaHPOHP:0003175
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Knee flexion contractureHPOHP:0006380
- Very frequent (80% to 99% of cases)
- Multicystic kidney dysplasiaHPOHP:0000003
- Very frequent (80% to 99% of cases)
- Prominent nasal bridgeHPOHP:0000426
- 5 of 19 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- KAT6BHGNC:17582
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: genitopatellar syndrome
- Also called
- absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome