Cleft lip/palate-ectodermal dysplasia syndrome

Cleft lip/palate-ectodermal dysplasia syndrome (also known as Zlotogora-Ogur syndrome or Margarita Island ectodermal dysplasia) is a rare genetic disorder characterized by the combination of orofacial clefting and features of ectodermal dysplasia. This condition affects multiple body systems derived from the ectoderm, including the skin, hair, nails, teeth, and sweat glands, along with structural abnormalities of the lip and palate. Key clinical features include cleft lip with or without cleft palate, sparse and dry hair (hypotrichosis), abnormal or missing teeth (hypodontia or oligodontia), nail dystrophy, and syndactyly (fusion of fingers or toes) in some cases. Affected individuals may also exhibit dry skin and reduced ability to sweat (hypohidrosis), which can lead to heat intolerance. The severity of symptoms can vary considerably among affected individuals, even within the same family. Treatment is symptomatic and multidisciplinary. Surgical repair of cleft lip and palate is typically performed in infancy or early childhood. Dental management, including prosthetic devices and orthodontic care, is important for addressing tooth abnormalities. Dermatologic care may be needed for skin and hair issues, and patients with hypohidrosis should take precautions to avoid overheating. Genetic counseling is recommended for affected families. There is currently no cure or disease-modifying therapy available for this condition.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Common questions about Cleft lip/palate-ectodermal dysplasia syndrome