Ramos-Arroyo syndrome

Autosomal dominant - en

Ramos-Arroyo syndrome is a rare genetic disorder characterized by a combination of distinctive facial features, developmental delay, and other congenital anomalies. The syndrome was first described by Dr. Carmen Ramos-Arroyo in the early 1980s.

Clinical Features

Individuals with Ramos-Arroyo syndrome typically present with a range of clinical features, including:

• Microcephaly (abnormally small head size)
• Craniofacial dysmorphism (distinctive facial features)
• Intellectual disability
• Growth retardation
• Congenital heart defects
• Skeletal anomalies

Facial Features

The facial features associated with Ramos-Arroyo syndrome may include:

• Micrognathia (small jaw)
• Epicanthal folds (skin folds of the upper eyelid covering the inner corner of the eye)
• Low-set ears
• Broad nasal bridge
• Downturned mouth corners

Genetics

Ramos-Arroyo syndrome is believed to follow an autosomal recessive inheritance pattern. This means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. The specific gene or genes involved in Ramos-Arroyo syndrome have not yet been identified.

Diagnosis

The diagnosis of Ramos-Arroyo syndrome is primarily based on clinical evaluation and the identification of characteristic features. Genetic testing may be used to support the diagnosis, although the specific genetic mutations associated with the syndrome are not well-defined.

Management

There is no cure for Ramos-Arroyo syndrome, and treatment is primarily supportive and symptomatic. Management may include:

• Early intervention programs to address developmental delays
• Special education services
• Physical therapy and occupational therapy
• Surgical intervention for congenital heart defects or other anomalies
• Regular monitoring and management of associated health issues

Prognosis

The prognosis for individuals with Ramos-Arroyo syndrome varies depending on the severity of the symptoms and the presence of associated health issues. Early intervention and supportive care can improve the quality of life for affected individuals.

Related Pages

• Genetic disorder
• Microcephaly
• Intellectual disability
• Congenital heart defect
• Autosomal recessive inheritance

External Links

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