The acrocallosal syndrome in sisters

Area of Science:

• Genetics
• Neurology
• Pediatrics

Background:

• Acrocallosal syndrome is a rare genetic disorder characterized by specific craniofacial and limb abnormalities.
• Previous cases of acrocallosal syndrome have been sporadic, making its inheritance pattern unclear.

Observation:

• Two sisters from a non-consanguineous family presented with macrocephaly, prominent forehead, hypertelorism, absent corpus callosum, inguinal hernias, hallucal phalange duplication, and severe intellectual disability.
• The older sister had a cleft palate, while the younger sister exhibited a supratentorial cyst and epileptic seizures.

Findings:

• This is the first reported instance of siblings affected by acrocallosal syndrome.
• The occurrence in siblings, along with potential parental consanguinity in other cases, supports a possible recessive inheritance pattern.

Implications:

• The findings suggest that acrocallosal syndrome may be inherited in an autosomal recessive manner.
• Further genetic studies are warranted to confirm the inheritance pattern and identify the causative genes.
• This information is crucial for genetic counseling and understanding the etiology of acrocallosal syndrome.