Living with Genitopatellar syndrome
A rare condition with differences in the genitals, missing or small kneecaps, and intellectual disability.
Understanding Genitopatellar syndrome
It can also affect bones, the brain, heart, kidneys, and teeth. Joint contractures at the hips and knees and clubfoot can occur. Development delay and intellectual disability are often severe. Many infants have weak muscle tone, which can cause breathing and feeding difficulties.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Missing or underdeveloped kneecaps
- Delayed development and intellectual disability
- Small head (microcephaly)
- Joint contractures at the hips and knees
- Clubfoot
- Small lower jaw (micrognathia)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists, genetic specialists and urinary and male reproductive system specialists.
- 3Consider genetic testing
Changes in KAT6B are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Urinary and male reproductive system specialists (urologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with KAT6A Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the KAT6B gene cause this condition. GARD lists both autosomal dominant and autosomal recessive inheritance.
Also known as: absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome; gtpts
Patient organizations
- KAT6A FoundationGenitopatellar syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Genitopatellar syndrome.
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