Ectrodactyly

Ectrodactyly

Introduction

Ectrodactyly, also known as split hand/split foot malformation (SHFM), is a rare congenital disorder. This condition is characterized by the absence of one or more central digits of the hands and feet.

Classification

Ectrodactyly is categorized into several types based on its phenotypic manifestations and genetic causes.

Types

1. Type 1: Simple Ectrodactyly
2. Type 2: Ectrodactyly associated with other limb anomalies
3. Type 3: Ectrodactyly associated with syndromes

Causes

Ectrodactyly is caused by genetic mutations. It can be inherited in an autosomal dominant pattern or can occur due to new mutations.

Diagnosis

Diagnosis is often made through physical examination and imaging techniques like X-rays. Genetic testing can confirm the diagnosis.

Treatment

Treatment options include surgical reconstruction and the use of prosthetics to improve function and appearance.

Epidemiology

Ectrodactyly affects approximately 1 in 90,000 live births worldwide.

Society and Culture

An example of a hand affected by ectrodactyly.

See Also

• Genetic disorders
• Congenital anomalies

External Links

• National Organization for Rare Disorders - Ectrodactyly
• National Center for Biotechnology Information - Ectrodactyly

Ectrodactyly Resources
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