The topic LAPS Syndrome you are seeking is a synonym, or alternative name, or is closely related to the medical condition Myhre Syndrome.

Quick Summary:

• Myhre Syndrome is an extremely uncommon genetic disorder characterized by several physical abnormalities, often accompanied by impaired intellectual development. Many cases are reported in males
• In majority of cases, spontaneous mutation(s) in the SMAD4 gene cause this disorder. However, it is possible for an affected individual to pass the mutation to his/her child, and hence, a positive family history is a risk factor for developing Myhre Syndrome
• The SMAD4 gene is an integral part of an important signaling pathway, known as the transforming growth factor-β (TGF-β pathway), which modulates several aspects of growth and development. A defective SMAD4 protein interferes with the proper functioning of this pathway, leading to the characteristic symptoms of the disorder
• Symptoms may include growth deficiency, skeletal abnormalities, certain characteristic facial features, stiff joints, abnormalities in formation and function of organs, and intellectual disability
• The diagnosis of Myhre Syndrome may involve a careful physical examination, recurrent clinical evaluations, advanced imaging techniques, and a thorough evaluation of family medical history
• Complications may include impaired movement, difficulty eating or breathing, abnormalities in blood flow, impaired social skills, renal and gastrointestinal system dysfunction, all contributing to a decreased quality of life
• The treatment provided is mostly symptomatic and may include medications, surgery, and physical therapy. The prognosis of Myhre Syndrome is dependent upon the severity of its signs and symptoms. In most cases, a lifelong monitoring of the condition and supportive care is essential

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