Acrocephalosyndactyly

Acrocephalosyndactyly is a group of congenital conditions characterized by irregular features of the face and skull (craniosynostosis) and hands and feet (syndactyly).

[6] Acrocephalosyndactyly is usually diagnosed after birth, although prenatal diagnosis is sometimes possible if the genetic variation is present in family members, as the conditions are typically inherited in an autosomal dominant pattern[1] Treatment often involves surgery in early childhood to correct for craniosynostosis[7] and syndactyly.

[9]  The term acrocephalosyndactyly (from Greek ἄκρος (ákros) ‘highest, at the extremity’, κεφαλή (kephalḗ) ‘head’, σύν (syn) 'together' and δάκτυλος (daktylos) 'finger') was first applied in 1906 by French physician Eugène Apert first to describe a condition characterized by craniosynostosis and syndactyly.

Generally, all forms of acrocephalosyndactyly are characterized by atypical craniofacial, hand, and foot characteristics, such as premature closure of the fibrous joints in between certain bones of the skull,[16][17] fusion of certain fingers or toes,[16][18] and/or more than the usual number of digits.

De-novo variants, or genetic alterations not inherited from one's parents, in different genes were reported to cause several types of acrocephalosyndactyly.

[1] Despite the current major efforts of surgical therapeutics on the effects of Acrocephalosyndactyly, morbidities still exist within individuals that have received treatment.

Those who reach adulthood often have lower levels of education than their peers, as well as greater difficulty in various social aspects, such as dating, marriage, or sexual relationships.

[15] There has been a case of a prenatal diagnosis of Apert syndrome using fetoscopy, where the fetus is observed using an endoscope inserted into the uterus from the abdomen.

[2] Cranioplasty should be performed in the first year of life to prevent disruptions in brain growth due to increased intracranial pressure.

Caregivers can prevent future challenges by exploring options for financial aid, health insurance, and accommodating educational institutions.

Primary caregivers are encouraged to prioritize their emotional health by reserving time for themselves and by sourcing a reliable support system.