Ophthalmo acromelic syndrome

Ophthalmo-acromelic syndrome is a rare genetic disorder characterized by anomalies in the development of the eyes and limbs. This condition is also known by other names, including Waardenburg anophthalmia syndrome, anophthalmia-syndactyly, and anophthalmia with limb anomalies. The syndrome is notable for its significant impact on individuals' quality of life, necessitating a multidisciplinary approach to management and care.

Symptoms and Characteristics

Ophthalmo-acromelic syndrome presents a range of clinical manifestations, primarily affecting the eyes and limbs. Key features include:

• Anophthalmia or microphthalmia: This refers to the absence or underdevelopment of one or both eyes, respectively.
• Syndactyly: The fusion of two or more fingers or toes.
• Oligodactyly: The presence of fewer than the usual number of fingers or toes.
• Acromelic limb reductions: Shortening of the bones in the hands and feet.

Additional anomalies may include facial dysmorphisms, such as a cleft lip or palate, and, in some cases, intellectual disability. However, the presence and severity of these features can vary widely among affected individuals.

Genetics

Ophthalmo-acromelic syndrome is inherited in an Autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the condition. The genes implicated in this syndrome include SMOC1, located on chromosome 14q24.3, and WNT3, although the exact mechanisms by which these mutations lead to the syndrome's manifestations are not fully understood.

Diagnosis

Diagnosis of ophthalmo-acromelic syndrome is based on clinical examination and the identification of characteristic features. Genetic testing can confirm the diagnosis by identifying mutations in the associated genes. Prenatal diagnosis may be possible for families with a known history of the condition, through methods such as amniocentesis or chorionic villus sampling (CVS).

Management and Treatment

There is no cure for ophthalmo-acromelic syndrome, and treatment is symptomatic and supportive. Management may involve a team of specialists, including ophthalmologists, orthopedic surgeons, and genetic counselors, among others. Interventions may include surgical procedures to address limb anomalies, prosthetic devices for eye defects, and supportive therapies to promote development and mobility.

Prognosis

The prognosis for individuals with ophthalmo-acromelic syndrome varies depending on the severity of the anomalies and the success of management strategies. With appropriate care, many affected individuals can lead active and fulfilling lives.

See Also

• Anophthalmia
• Syndactyly
• Autosomal recessive inheritance
• Genetic counseling

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