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SCARF Syndrome

SCARF Syndrome Definition

SCARF syndrome is a very rare disorder characterized by skeletal defects, cutis laxa, ambiguous genitalia, craniostenosis, mental retardation, and facial abnormalities. SCARF syndrome shares some clinical features of Lenz-Majewski hyperostotic dwarfism syndrome.

SCARF Syndrome Symptoms and Signs

SCARF syndrome presents with premature fusion of skull bones, loose skin, ambiguous genitalia, skeletal abnormalities, psychomotor impairment, mental retardation, and facial abnormalities, among others. Affected individuals may also have abnormally placed or small nipples, excessive skin folds on the neck, a high nose bridge, a high palate, hyperxtensible joints, a short neck, a small penis, a small jaw, reduced abdominal muscles, a long upper lip groove, droopy eyelids, sparse hair on the scalp, dental deformities, enlarged liver, and abnormally shaped vertebrae.

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