What is the inheritance pattern for Carpenter Syndrome?

Carpenter Syndrome is characterized by specific physical anomalies and developmental issues, most notably craniosynostosis, which involves the premature fusion of skull bones, leading to an abnormal shape of the head. The inheritance pattern of Carpenter Syndrome is autosomal recessive, meaning that a child must inherit two copies of the mutated gene—one from each parent—to manifest the condition.

In autosomal recessive inheritance, both parents may be carriers of the mutation without exhibiting symptoms themselves. Only when both alleles for the gene in question are the mutated form does the syndrome present in the offspring. This explains the occurrence of the syndrome in families without prior affected individuals, as carriers can pass the normal allele to some children and the mutated allele to others.

Thus, identifying Carpenter Syndrome's inheritance as autosomal recessive is crucial for understanding its familial transmission patterns and for advising potential parents who may be carriers. Knowing this helps inform genetic counseling and aids in risk assessment for future pregnancies.