anauxetic dysplasia 3

Anauxetic dysplasia 3 is a skeletal condition that affects bone development and connective tissues, leading to features such as severe short stature and distinct facial and hand characteristics. It results from pathogenic variants in the RMP64 gene. The condition typically presents in early childhood with noticeable physical anomalies and developmental delays. Prevalence estimates are not well established, and clinical experience indicates that severity can vary widely among affected individuals.

Individuals with anauxetic dysplasia 3 commonly present with a constellation of skeletal features including plagiocephaly, brachydactyly, retrognathia, thoracolumbar kyphoscoliosis, trident hand, and pectus excavatum. Additional findings such as sparse scalp hair, small nails, and metaphyseal cupping contribute to a recognizable pattern of dysmorphic features. Developmental concerns are also prominent, with many children experiencing global developmental delay, motor delay, and generalized hypotonia. Less consistently, some may have recurrent respiratory infections and oligodontia. Not all individuals experience every feature, and severity varies considerably.

The genetic basis of anauxetic dysplasia 3 lies in pathogenic variants in the RMP64 gene. This condition is inherited in an autosomal recessive pattern, meaning that an affected individual inherits a mutated copy of the gene from each parent. Parents who share a common ancestor are at increased risk of each carrying the pathogenic variant, which raises the chance of having an affected child. Genetic counseling is recommended to help families understand recurrence risks and discuss family planning options.

Currently, management focuses on supportive care and symptom management since there are no FDA-approved treatments specifically for anauxetic dysplasia 3. Treatment plans are tailored to the individual and often involve a multidisciplinary team that may include orthopedic specialists, developmental pediatricians, and physical therapists. Regular surveillance is an essential part of long-term care, helping to monitor growth, skeletal complications, and developmental progress. Patients and families are encouraged to discuss treatment options with their healthcare team and consider genetic counseling to better understand the condition.

Outcomes for individuals with anauxetic dysplasia 3 vary depending on the severity of skeletal abnormalities and the extent of developmental delays. With current standards of care, many individuals achieve an improved quality of life, although challenges related to short stature and orthopedic complications may persist. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialist teams familiar with this condition, and genetic counseling can provide additional guidance. Severity and symptoms vary widely between individuals.