atelosteogenesis type II

Atelosteogenesis type II is a severe congenital bone dysplasia that profoundly affects skeletal development, leading to characteristic limb shortening, cleft palate, and distinctive facial dysmorphism. The condition is caused by mutations in the SLC26A2 gene, which plays a critical role in cartilage and bone formation. It presents in the perinatal period, with affected infants showing features such as hitchhiker thumbs and specific radiographic skeletal abnormalities. This disorder is very rare, affecting fewer than 1 in a million individuals.

Infants with atelosteogenesis type II typically present with marked skeletal abnormalities evident at birth. Characteristic clinical features include hitchhiker thumbs and increased intervertebral space, which are consistently observed. Additional findings often include limb shortening, a normal-sized skull accompanied by a cleft palate, and distinctive facial dysmorphism. Not all individuals experience every feature, and severity varies considerably.

Atelosteogenesis type II is caused by pathogenic variants in the SLC26A2 gene, a gene essential for the proper development of cartilage and bone. It is inherited in an autosomal recessive pattern, meaning that an affected individual must inherit two copies of the mutated gene. This condition is more common when parents share a common ancestor, since both parents are more likely to carry the same rare genetic variant. Genetic counseling is recommended to help families understand the inheritance pattern and potential recurrence risks.

Currently, management of atelosteogenesis type II focuses on supportive care and symptom management tailored to the unique needs of each individual. The treatment approach typically involves a multidisciplinary team that may include neonatologists, orthopedic specialists, and palliative care providers. Genetic counseling is also encouraged to help families navigate the challenges of the condition and understand available supportive resources. There are no specifically approved treatments for this condition at this time.

Atelosteogenesis type II is a life‐limiting condition with the perinatal period being critical for survival. The course of the condition is highly variable, and outcomes depend on the severity of symptoms and access to specialized care. With current standards of care, management is focused on optimizing comfort and quality of life. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with medical specialists familiar with this condition and to seek genetic counseling for further guidance.