cranioectodermal dysplasia 2

Cranioectodermal dysplasia 2 is a multisystem condition that primarily affects craniofacial and skeletal development. It is caused by mutations in the WDR35 gene, which play a critical role in normal developmental processes. The disorder is inherited in an autosomal recessive pattern, meaning that an affected individual has received a mutated copy of the gene from each parent. Precise prevalence estimates are not well established, but the condition is recognized as uncommon within clinical practice.

The clinical presentation of cranioectodermal dysplasia 2 is characterized by a collection of distinctive features affecting several organ systems. Craniofacial features include telecanthus, craniosynostosis, hypertelorism, frontal bossing, dolichocephaly, a short neck, narrow palpebral fissures, and a combination of dental anomalies such as microdontia, widely spaced teeth, and fused teeth. Skeletal findings are prominent, with syndactyly, rhizomelia, brachydactyly, a narrow chest, pectus excavatum, and the presence of an inguinal hernia being consistently observed. In addition, a subset of individuals may present with less common features such as unilateral ptosis, hypermetropia, strabismus, sparse hair, recurrent pneumonia, and micrognathia. Not all individuals experience all of these features, and severity varies widely.

Cranioectodermal dysplasia 2 results from pathogenic variants in the WDR35 gene. This gene is important for proper cellular processes during development, and mutations disrupt the normal formation of craniofacial and skeletal structures. The condition is inherited in an autosomal recessive manner, which means that an individual must receive a mutated copy of the gene from each parent to be affected. Consequently, there is a 25% recurrence risk for families in which both parents are carriers, and genetic counseling is recommended for informed family planning.

Currently, management of cranioectodermal dysplasia 2 focuses on supportive care and symptom management because no treatments are specifically approved for this condition. Treatment is tailored to the individual and typically involves a multidisciplinary team to address the wide range of clinical features. Regular surveillance is an essential part of long-term care, with periodic evaluations by relevant specialists to monitor for potential complications. Genetic counseling is recommended to help families understand the inheritance pattern and explore family planning options, and patients are encouraged to discuss treatment options with their healthcare team to determine the most appropriate approach.

Outcomes for individuals with cranioectodermal dysplasia 2 vary depending on the severity of features, age at diagnosis, and access to specialized care. The disorder may lead to significant challenges early in life, yet many individuals experience stabilization with ongoing multidisciplinary management. With current standards of care, outcomes continue to evolve as new monitoring and treatment strategies are developed, and families often find it helpful to connect with specialists familiar with the condition. Not all individuals experience every feature, and severity varies widely.