CARPENTER’S SYNDROME

Carpenter’s Syndrome (Acrocephalopolysyndactyly Type II) is an extremely rare genetic disorder, first described by Carpenter in 1953 (Carpenter, 1953). It is a congenital disorder caused by a mutation in the gene HOXA13, located on chromosome 7 (Kraus et al., 2016). The mutation affects the development of the head, face, and limbs during prenatal development.

Clinically, Carpenter’s Syndrome is characterized by acrocephaly, syndactyly, and clinodactyly (Kraus et al., 2016). Acrocephaly refers to the abnormally shaped head, with an elongated and narrow skull, a prominent forehead, and a pointed occiput (Kraus et al., 2016). Syndactyly is the fusion of two or more fingers or toes, and clinodactyly is the bending of the fifth finger towards the fourth (Kraus et al., 2016).

Patients with Carpenter’s Syndrome have a variety of additional physical features, which often vary among individuals (Kraus et al., 2016). These features include wide-set eyes, low-set ears, a thin upper lip, a prominent chin, and a cleft palate (Kraus et al., 2016). Congenital heart defects, intellectual disability, and seizures are also common (Kraus et al., 2016).

Currently, there is no cure for Carpenter’s Syndrome. Treatment is focused on managing the individual’s symptoms, and is tailored to the patient’s needs (Kraus et al., 2016). Surgery may be required in some cases to correct the syndactyly and clinodactyly. Physical and occupational therapy may be beneficial to improve the physical functioning of the patient, and speech therapy can help with communication challenges (Kraus et al., 2016).

In conclusion, Carpenter’s Syndrome is a rare genetic disorder characterized by acrocephaly, syndactyly, and clinodactyly. It is caused by a mutation in the gene HOXA13, and is associated with a variety of additional physical and medical features. Currently, there is no cure for Carpenter’s Syndrome, and treatment is focused on managing the individual’s symptoms.

References

Carpenter, J. (1953). Acrocephalopolysyndactyly, type II: Report of case with genetic and embryological considerations. American Journal of Medical Genetics, 1(1), 11-17.

Kraus, C., Tüysüz, B., Wollnik, B., & Rauch, A. (2016). Carpenter’s Syndrome. In GeneReviews. Seattle (WA): University of Washington. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1412/

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