CHAND syndrome

CHAND syndrome (Curly Hair–Ankyloblepharon–Nail Dysplasia syndrome) is an extremely rare genetic disorder characterized by a triad of clinical features: curly or woolly hair, ankyloblepharon filiforme adnatum (fusion of the upper and lower eyelids by thin strands of tissue), and nail dysplasia (abnormal development of the nails). The condition is apparent at birth or in early infancy. The hair abnormality typically presents as tightly curled or kinky hair that is present from birth. Ankyloblepharon, the partial fusion of the eyelids, can vary in severity and may require surgical correction to allow normal eye opening and visual development. Nail changes include dystrophic, thickened, or hypoplastic nails affecting both fingernails and toenails. CHAND syndrome primarily affects the ectodermal structures of the body — specifically the skin appendages (hair and nails) and the eyelids. It belongs to the broader group of ectodermal dysplasias. The condition has been reported in only a handful of families worldwide, making it one of the rarest ectodermal dysplasia syndromes. Because of its extreme rarity, the molecular genetic basis of CHAND syndrome has not been fully elucidated, though autosomal recessive inheritance has been suggested based on reported familial cases. Treatment is symptomatic and supportive: surgical lysis of the ankyloblepharon strands is typically performed shortly after birth to allow normal eyelid function, while hair and nail abnormalities are managed conservatively. No specific curative therapy exists. Genetic counseling is recommended for affected families.

Common questions about CHAND syndrome