Blepharophimosis ptosis esotropia syndactyly short

Blepharophimosis, Ptosis, Esotropia, Syndactyly, Short Stature Syndrome (BPES) is a rare genetic condition characterized by a combination of facial, limb, and stature abnormalities. The syndrome is notable for its impact on the eyes and eyelids, hand formation, and overall growth, affecting individuals from birth. This article provides an overview of BPES, including its symptoms, causes, diagnosis, and management.

Symptoms

BPES is marked by several key features:

• Blepharophimosis: A condition where the eyelid opening is abnormally narrow.
• Ptosis: Drooping of the upper eyelids, which may impair vision.
• Esotropia: A form of strabismus where one or both eyes turn inward.
• Syndactyly: The fusion of two or more fingers or toes.
• Short Stature: Individuals with BPES often have a height significantly below the average for their age and sex.

Additional symptoms may include hearing problems, intellectual disability, and facial dysmorphisms such as a broad nasal bridge and low-set ears.

Causes

BPES is a genetic disorder, typically inherited in an autosomal dominant pattern, meaning only one copy of the altered gene in each cell is sufficient to cause the disorder. The condition has been associated with mutations in the FOXL2 gene, which plays a crucial role in the development of the eyes, face, and ovaries.

Diagnosis

Diagnosis of BPES involves a comprehensive clinical evaluation, including a detailed patient history and physical examination. Genetic testing can confirm the presence of mutations in the FOXL2 gene, providing a definitive diagnosis.

Management

There is no cure for BPES, but various treatments can manage its symptoms. Surgical interventions may correct eyelid abnormalities and strabismus, improving vision and appearance. Syndactyly can often be treated with surgery to separate fused digits. Growth hormone therapy may be considered for individuals with short stature. Multidisciplinary care from ophthalmologists, orthopedic surgeons, endocrinologists, and genetic counselors is essential for managing the condition.

Prognosis

The prognosis for individuals with BPES varies depending on the severity of symptoms and the success of treatment interventions. With appropriate management, most individuals can lead active, fulfilling lives.

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