Genitopatellar syndrome

A rare genetic disorder

Classification
External resources

Genitopatellar syndrome is a rare genetic disorder characterized by a combination of genitourinary anomalies, patellar hypoplasia or aplasia, and other distinctive features. It is a congenital condition, meaning it is present at birth, and is associated with mutations in the KAT6B gene.

Presentation

Individuals with genitopatellar syndrome typically present with a variety of clinical features. These may include:

• Genitourinary anomalies: These can include cryptorchidism (undescended testes) in males, and other abnormalities of the genitalia and urinary tract.
• Patellar hypoplasia or aplasia: The patellae (kneecaps) may be underdeveloped or absent, leading to difficulties with mobility and joint function.
• Craniofacial dysmorphism: Distinctive facial features may be present, such as a prominent forehead, hypertelorism (wide-set eyes), and a broad nasal bridge.
• Intellectual disability: Many individuals with this syndrome have some degree of intellectual disability or developmental delay.
• Skeletal anomalies: These can include joint contractures, hip dislocation, and other skeletal abnormalities.
• Other features: Additional features may include congenital heart defects, renal anomalies, and gastrointestinal issues.

Genetics

Genitopatellar syndrome is caused by mutations in the KAT6B gene, which is located on chromosome 10. The KAT6B gene provides instructions for making a protein that is involved in regulating the activity of other genes, particularly during development. Mutations in this gene disrupt normal development, leading to the features of genitopatellar syndrome.

Diagnosis

Diagnosis of genitopatellar syndrome is based on clinical evaluation and the identification of characteristic features. Genetic testing can confirm the diagnosis by identifying mutations in the KAT6B gene. Prenatal diagnosis may be possible if the mutation is known in the family.

Management

Management of genitopatellar syndrome is symptomatic and supportive. It may involve a multidisciplinary team of specialists, including pediatricians, orthopedic surgeons, urologists, and genetic counselors.

• Orthopedic management: This may include physical therapy, bracing, or surgical interventions to address joint and skeletal issues.
• Urological management: Surgical correction of genitourinary anomalies may be necessary.
• Developmental support: Early intervention programs and special education services can help address developmental delays and intellectual disabilities.

Prognosis

The prognosis for individuals with genitopatellar syndrome varies depending on the severity of the features and the presence of associated complications. With appropriate management, many individuals can achieve a good quality of life.

Related pages

• Genetic disorder
• KAT6B
• Congenital disorder
• Orthopedic surgery