SCARF syndrome

X-linked recessive.svg

SCARF syndrome is a rare genetic disorder characterized by a combination of skeletal abnormalities, craniofacial anomalies, and cutaneous syndactyly. The acronym SCARF stands for Skeletal abnormalities, Cutis laxa, Aplasia cutis congenita, Retardation of growth and development, and Facial abnormalities.

Clinical Features

Individuals with SCARF syndrome typically present with a variety of clinical features, which may include:

• Skeletal abnormalities: These can include short stature, scoliosis, and other bone malformations.
• Cutis laxa: A condition where the skin is loose, wrinkled, and lacks elasticity.
• Aplasia cutis congenita: A condition characterized by the absence of skin at birth, usually on the scalp.
• Retardation of growth and development: This can manifest as delayed physical and cognitive development.
• Facial abnormalities: These may include micrognathia (small jaw), cleft palate, and other craniofacial dysmorphisms.

Genetics

SCARF syndrome is believed to be 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 disorder. The specific gene or genes involved in SCARF syndrome have not yet been identified.

Diagnosis

The diagnosis of SCARF syndrome is primarily clinical, based on the presence of the characteristic features. Genetic testing may be used to support the diagnosis and to differentiate it from other similar syndromes.

Management

There is no cure for SCARF syndrome, and treatment is primarily supportive and symptomatic. Management may involve a multidisciplinary team, including:

• Orthopedic surgery for skeletal abnormalities
• Dermatological care for cutis laxa and aplasia cutis congenita
• Pediatric and developmental medicine for growth and developmental delays
• Plastic surgery for facial abnormalities

Prognosis

The prognosis for individuals with SCARF syndrome varies depending on the severity of the symptoms and the presence of any associated complications. Early intervention and supportive care can improve the quality of life for affected individuals.

See Also

• Genetic disorder
• Cutis laxa
• Aplasia cutis congenita
• Craniofacial abnormalities
• Skeletal dysplasia

Related Pages

• Genetic disorder
• Cutis laxa
• Aplasia cutis congenita
• Craniofacial abnormalities
• Skeletal dysplasia