Curly hair ankyloblepharon nail dysplasia syndrome

Curly hair-ankyloblepharon-nail dysplasia syndrome
Synonyms	CHANDS
Pronounce	N/A
Specialty	N/A
Symptoms	Curly hair, ankyloblepharon, nail dysplasia
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	N/A
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Symptomatic management
Medication	N/A
Prognosis	Variable
Frequency	N/A
Deaths	N/A

Curly hair-ankyloblepharon-nail dysplasia syndrome (CHANDS) is a rare genetic disorder characterized by a triad of features: curly hair, ankyloblepharon, and nail dysplasia. It is a congenital condition, meaning it is present at birth, and is caused by mutations in specific genes that affect the development of hair, nails, and eyelids.

Presentation

Individuals with CHANDS typically present with:

• Curly hair: The hair is often tightly curled and may be sparse or brittle.
• Ankyloblepharon: This refers to the partial or complete fusion of the eyelids, which can affect vision and require surgical intervention.
• Nail dysplasia: The nails may be underdeveloped, malformed, or absent. This can affect both fingernails and toenails.

Genetics

CHANDS is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected. The specific gene mutations responsible for CHANDS have been identified in some cases, but the genetic basis may vary among different families.

Diagnosis

Diagnosis of CHANDS is primarily based on clinical evaluation of the characteristic features. Genetic testing can confirm the diagnosis by identifying mutations in the relevant genes. Differential diagnosis may include other syndromes with overlapping features, such as ectodermal dysplasia.

Management

There is no cure for CHANDS, and treatment is focused on managing symptoms and improving quality of life. This may include:

• Surgical correction of ankyloblepharon to prevent vision problems.
• Cosmetic and supportive treatments for hair and nail abnormalities.
• Regular follow-up with a multidisciplinary team, including dermatologists and ophthalmologists.

Prognosis

The prognosis for individuals with CHANDS varies depending on the severity of the symptoms and the presence of any associated complications. With appropriate management, many individuals can lead normal lives.

Also see

• Ectodermal dysplasia
• Genetic disorders
• Congenital anomalies

Dermatology and Rheumatologic diseases A - Z

A | B | C | E | F | G | H | I | J | K | L | M | O | P | R | S | T | V

Glossary of dermatology