Kozlowski–Tsuruta–Taki syndrome

Kozlowski–Tsuruta–Taki syndrome
Synonyms
Pronounce	N/A
Specialty	Medical genetics
Symptoms	Short stature, craniofacial dysmorphism, skeletal abnormalities
Complications	N/A
Onset
Duration
Types	N/A
Causes	Genetic mutation
Risks
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Symptomatic management
Medication	N/A
Prognosis
Frequency	Rare
Deaths	N/A

Kozlowski–Tsuruta–Taki syndrome is a rare genetic disorder characterized by a combination of short stature, distinctive craniofacial dysmorphism, and various skeletal abnormalities. This syndrome was first described by Kozlowski, Tsuruta, and Taki, and is considered a rare condition with only a few cases reported in the medical literature.

Clinical Features

Individuals with Kozlowski–Tsuruta–Taki syndrome typically present with:

• Short stature: Affected individuals often have significantly reduced height compared to their peers.
• Craniofacial dysmorphism: This may include features such as a prominent forehead, hypertelorism (wide-set eyes), and a flat nasal bridge.
• Skeletal abnormalities: These can include abnormalities in the spine, such as scoliosis, and other bone deformities.

Genetics

The exact genetic cause of Kozlowski–Tsuruta–Taki syndrome is not fully understood, but it is believed to be due to a genetic mutation. The inheritance pattern is not clearly established due to the rarity of the condition.

Diagnosis

Diagnosis of Kozlowski–Tsuruta–Taki syndrome is primarily based on clinical evaluation and the identification of characteristic features. Genetic testing may be used to support the diagnosis and to rule out other conditions with overlapping symptoms.

Management

There is no cure for Kozlowski–Tsuruta–Taki syndrome. Management is focused on addressing the symptoms and may involve:

• Growth hormone therapy: In some cases, to address short stature.
• Orthopedic interventions: To manage skeletal abnormalities and improve mobility.
• Supportive therapies: Such as physical therapy and occupational therapy to enhance quality of life.

Prognosis

The prognosis for individuals with Kozlowski–Tsuruta–Taki syndrome varies depending on the severity of symptoms and the presence of any associated complications. Early intervention and supportive care can improve outcomes.

Also see

• Skeletal dysplasia
• Craniofacial abnormalities
• Genetic disorders
• Rare diseases

NIH genetic and rare disease info

• NIH info on Kozlowski–Tsuruta–Taki syndrome

Kozlowski–Tsuruta–Taki syndrome is a rare disease.

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