Pinheiro–Freire–Maia–Miranda syndrome

Pinheiro–Freire–Maia–Miranda Syndrome

Pinheiro–Freire–Maia–Miranda syndrome is a rare genetic disorder characterized by a combination of craniofacial anomalies, skeletal abnormalities, and other systemic manifestations. This syndrome is named after the researchers who first described it.

Clinical Features

Patients with Pinheiro–Freire–Maia–Miranda syndrome typically present with a distinct set of clinical features, which may include:

• Craniofacial Anomalies: These may include micrognathia, cleft palate, and hypertelorism.
• Skeletal Abnormalities: Patients may exhibit short stature, brachydactyly, and other limb malformations.
• Neurological Manifestations: Some individuals may have developmental delays or intellectual disability.
• Other Features: Additional features can include congenital heart defects, renal anomalies, and hearing loss.

Genetics

Pinheiro–Freire–Maia–Miranda syndrome is believed to follow an autosomal recessive pattern of inheritance. This means that an affected individual must inherit two copies of the mutated gene, one from each parent. The specific gene or genes involved in this syndrome have not been fully elucidated, and research is ongoing to identify the genetic basis of the disorder.

Diagnosis

Diagnosis of Pinheiro–Freire–Maia–Miranda syndrome is primarily clinical, based on the characteristic features observed in the patient. Genetic testing may be used to confirm the diagnosis and to differentiate it from other syndromes with overlapping features.

Management

Management of Pinheiro–Freire–Maia–Miranda syndrome is symptomatic and supportive. It may involve:

• Surgical Interventions: To correct craniofacial anomalies such as cleft palate.
• Therapies: Including physical therapy, occupational therapy, and speech therapy to address developmental delays.
• Regular Monitoring: For potential complications such as cardiac or renal issues.

Prognosis

The prognosis for individuals with Pinheiro–Freire–Maia–Miranda syndrome varies depending on the severity of the symptoms and the presence of associated complications. Early intervention and supportive care can improve the quality of life for affected individuals.

Also see

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

NIH genetic and rare disease info

• NIH info on Pinheiro–Freire–Maia–Miranda syndrome

Pinheiro–Freire–Maia–Miranda syndrome is a rare disease.

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