Contractures-ectodermal dysplasia-cleft lip/palate syndrome

Contractures-ectodermal dysplasia-cleft lip/palate syndrome, also known as Rosselli-Gulienetti syndrome or Zlotogora-Ogur syndrome, is an extremely rare genetic disorder characterized by the combination of congenital joint contractures, ectodermal dysplasia, and cleft lip and/or cleft palate. The condition affects multiple body systems including the skin and its appendages (ectodermal structures), the musculoskeletal system, and craniofacial structures. Key clinical features include flexion contractures of the fingers and sometimes other joints, sparse or absent hair (hypotrichosis), abnormal or missing teeth (hypodontia or oligodontia), nail dystrophy, dry skin, and orofacial clefting that may involve the lip, palate, or both. Syndactyly (fusion of fingers or toes) has also been reported in some affected individuals. The ectodermal features may include anhidrosis or hypohidrosis, meaning reduced or absent sweating, which can lead to heat intolerance. This syndrome has been described in a very small number of families worldwide, making it one of the rarest conditions within the ectodermal dysplasia spectrum. The disorder is present from birth, with many features apparent in the neonatal period. There is no specific cure for this condition. Treatment is supportive and multidisciplinary, involving surgical correction of cleft lip and palate, orthopedic management of joint contractures including physical therapy and possible surgical release, dental prosthetics and ongoing dental care for tooth abnormalities, and dermatologic management for skin and hair issues. Genetic counseling is recommended for affected families.

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