Sakati-Nyhan-Tisdale syndrome

Sakati-Nyhan-Tisdale Syndrome (SNTS), also known as Acrocephalopolysyndactyly Type III, is a rare genetic disorder characterized by a combination of physical anomalies and developmental delays. This syndrome was first described by Sakati, Nyhan, and Tisdale in 1971, following their observation of a distinct set of symptoms in several patients. SNTS is considered extremely rare, with a limited number of cases reported in the medical literature.

Symptoms and Characteristics

SNTS presents a wide range of symptoms, including but not limited to:

• Craniofacial Abnormalities: Patients often exhibit acrocephaly, where the top of the skull is pointed due to premature closure of the skull sutures. Other facial anomalies may include a prominent forehead, hypertelorism (widely spaced eyes), and a small, underdeveloped jaw.
• Limb Malformations: Polysyndactyly, the presence of extra fingers or toes, is a hallmark of the syndrome. Additionally, patients may have webbed or fused digits (syndactyly).
• Growth and Development: Individuals with SNTS may experience growth retardation and developmental delays. Intellectual disability of varying degrees is also common.
• Endocrine Issues: Some patients have reported endocrine problems, including hypothyroidism or growth hormone deficiency.

Causes

The exact cause of Sakati-Nyhan-Tisdale Syndrome remains unknown. However, it is believed to be genetic, possibly following an autosomal recessive inheritance pattern. This means that a child would need to inherit one copy of the mutated gene from each parent to be affected. Research is ongoing to identify the specific gene(s) involved.

Diagnosis

Diagnosis of SNTS is primarily based on the physical characteristics and symptoms presented by the patient. Genetic testing may help in confirming the diagnosis but is not definitive due to the rarity of the syndrome and the current lack of identification of the causative gene(s). Prenatal diagnosis may be possible through ultrasound findings and genetic counseling is recommended for families with a history of the syndrome.

Treatment

There is no cure for Sakati-Nyhan-Tisdale Syndrome. Treatment is symptomatic and supportive, focusing on managing the individual symptoms and improving the quality of life for the patient. This may include:

• Surgical Interventions: Surgeries may be necessary to correct physical malformations such as craniosynostosis or syndactyly.
• Therapies: Physical, occupational, and speech therapies can help in managing developmental delays and improving motor skills and communication.
• Endocrine Management: Hormone replacement therapy may be required for those with endocrine issues.

Prognosis

The prognosis for individuals with SNTS varies depending on the severity of symptoms and the success of management strategies. Early intervention and supportive care can improve outcomes and quality of life.

See Also

• Craniosynostosis
• Polysyndactyly
• Syndactyly
• Hypothyroidism

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