Acrocephalopolysyndactyly is a group of several syndromes consisting of Apert syndrome (Acrocephalosyndactyly, Type I), Carpenter syndrome (Acrocephalosyndactyly, Type II), Saethre-Chotzen syndrome (Acrocephalosyndactyly, Type III), and Pfeiffer syndrome (Acrocephalosyndactyly, Type V), whose basic features are craniosynostosis and polysyndactyly. Carpenter syndrome is of autosomal recessive inheritance and classically consists of acrocephaly with variable synostosis of sagittal, lambdoid and coronal sutures. The most common clinical features of the syndrome are syndactyly, polydactyly, especially preaxial polydactyly of toes, congenital heart disease, intellectual disability, hypogonadism, obesity, umbilical hernia, coxa vara, pes varus and clinodactyly. The clinical spectrum and additional malformations in Carpenter syndrome may show considerable differences. Besides common clinical presentation, different skeletal abnormalities as genu valgum, lateral displacement of patella, poor development of acetabula, absent coccyx, spina bifida occulta and kyphoscoliosis may be seen. Dental developmental abnormalities, hypodontia, low-set ears or malformed ears, epicanthal folds, depressed nasal bridge and thick neck may also accompany the major clinical findings.
Carpenter syndrome-1 is associated with mutations in RAB23 gene.
Temtamy, 1966, described a male patient, born to first cousin parents, with Carpenter syndrome. He had preaxial polydactyly of the toes and closure of the coronal suture. Temtamy suggested an autosomal recessive inheritance for the syndrome. It was only this description of Temtamy that Carpenter syndrome was recognized as a distinct disease entity.
Al-Arrayed (Personal communication, Dubai, 2006) reported the presence of a consanguineous Egyptian family with Carpenter syndrome. Affected individuals presented with acrocephaly, peculiar facies, brachydactyly and syndactyly in the hands, and preaxial polydactyly and syndactyly of the toes.
IIn 1972, Der Kaloustian et al. described a Muslim Palestinian patient with acrocephalopolysyndactyly Type II.
In 1997, Zlotogora studied 2000 Palestinian Arabic families and found that in 98 families at least one individual had congenital hydrocephalus and/or open neural tube defect. In one of these families, the brain malformation was part of Carpenter syndrome.