Ectrodactyly-polydactyly syndrome

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Ectrodactyly-polydactyly syndrome
Synonyms Split hand-split foot malformation with polydactyly
Pronounce N/A
Specialty N/A
Symptoms Ectrodactyly, polydactyly, syndactyly, limb malformations
Complications N/A
Onset Congenital
Duration Lifelong
Types N/A
Causes Genetic mutations
Risks Family history
Diagnosis Genetic testing, physical examination
Differential diagnosis Ectrodactyly, polydactyly, syndactyly, other limb malformation syndromes
Prevention N/A
Treatment Surgical intervention, occupational therapy, physical therapy
Medication N/A
Prognosis N/A
Frequency Rare
Deaths N/A


Ectrodactyly-Polydactyly Syndrome is a rare genetic disorder characterized by the abnormal development of the hands and feet. The condition is also known as Split Hand/Split Foot Malformation (SHFM) or Lobster Claw Syndrome due to the distinctive appearance of the affected extremities.

Etiology[edit | edit source]

Ectrodactyly-Polydactyly Syndrome is caused by mutations in several genes, including DLX5, DLX6, FBXW4, and WNT10B. These genes are involved in the formation and development of the limbs during embryonic development. Mutations in these genes disrupt the normal patterning of the hands and feet, leading to the characteristic features of the syndrome.

Clinical Features[edit | edit source]

The primary feature of Ectrodactyly-Polydactyly Syndrome is the presence of ectrodactyly, or split hand/foot malformation. This involves the absence of one or more central digits of the hand or foot, resulting in a cleft or split appearance. In addition, individuals with this syndrome may also have polydactyly, or the presence of extra digits. Other features may include syndactyly (fusion of digits), brachydactyly (shortened digits), and hypoplasia (underdevelopment) of the bones of the hands and feet. Some individuals may also have abnormalities of the skin, nails, and hair.

Diagnosis[edit | edit source]

Diagnosis of Ectrodactyly-Polydactyly Syndrome is typically based on the characteristic physical features. Genetic testing can confirm the diagnosis and identify the specific gene mutation.

Treatment[edit | edit source]

Treatment for Ectrodactyly-Polydactyly Syndrome is primarily supportive and may include physical therapy, occupational therapy, and surgical intervention to improve function and appearance of the hands and feet.

Prognosis[edit | edit source]

The prognosis for individuals with Ectrodactyly-Polydactyly Syndrome varies depending on the severity of the malformations and any associated complications. With appropriate treatment and support, many individuals with this syndrome can lead productive lives.

See Also[edit | edit source]


NIH genetic and rare disease info[edit source]

Ectrodactyly-polydactyly syndrome is a rare disease.



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