Schmitt Gillenwater Kelly syndrome

Autosomal dominant - en

Schmitt Gillenwater Kelly syndrome

Schmitt Gillenwater Kelly syndrome is a rare genetic disorder characterized by a combination of urogenital anomalies, skeletal abnormalities, and craniofacial dysmorphisms. The syndrome is named after the researchers who first described it.

Presentation

Individuals with Schmitt Gillenwater Kelly syndrome typically present with a variety of symptoms that can affect multiple systems of the body. Common features include:

• Hypospadias: A condition where the opening of the urethra is on the underside of the penis rather than at the tip.
• Cryptorchidism: The absence of one or both testes from the scrotum.
• Renal anomalies: Abnormalities in the structure or function of the kidneys.
• Skeletal abnormalities: These may include scoliosis, kyphosis, and other bone malformations.
• Craniofacial dysmorphisms: Distinctive facial features such as a broad forehead, wide-set eyes (hypertelorism), and a flat nasal bridge.

Genetics

The exact genetic cause of Schmitt Gillenwater Kelly syndrome is not well understood. It is believed to follow an autosomal recessive inheritance pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder.

Diagnosis

Diagnosis of Schmitt Gillenwater Kelly syndrome is based on clinical evaluation, identification of characteristic physical findings, and a detailed patient history. Genetic testing may be used to confirm the diagnosis and to identify the specific genetic mutation responsible for the syndrome.

Management

There is no cure for Schmitt Gillenwater Kelly syndrome, and treatment is typically focused on managing the symptoms and improving the quality of life for affected individuals. This may include:

• Surgical correction of urogenital anomalies such as hypospadias and cryptorchidism.
• Regular monitoring and management of renal function.
• Orthopedic interventions for skeletal abnormalities.
• Supportive therapies such as physical therapy and occupational therapy.

Prognosis

The prognosis for individuals with Schmitt Gillenwater Kelly syndrome varies depending on the severity of the symptoms and the presence of any associated complications. Early diagnosis and appropriate management can improve outcomes and quality of life.

Related Pages

• Genetic disorder
• Hypospadias
• Cryptorchidism
• Renal anomalies
• Skeletal abnormalities
• Craniofacial dysmorphisms