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Carpenter Syndrome

Abstract

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NORD is very grateful to Soledad Kleppe, MD, Associate Professor, CEMIC, Department of Genetics, Buenos Aires, Argentina, for assistance in the preparation of this report.

Synonyms of Carpenter Syndrome

  • ACPS II
  • acrocephalopolysyndactyly type II

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Carpenter syndrome belongs to a group of rare genetic disorders known as "acrocephalopolysyndactyly" (ACPS) disorders. All forms of ACPS are characterized by premature closure of the fibrous joints (cranial sutures) between certain bones of the skull (craniosynostosis), causing the top of the head to appear pointed (acrocephaly); webbing or fusion (syndactyly) of certain fingers or toes (digits); and/or more than the normal number of digits (polydactyly). Carpenter syndrome is also known as ACPS type II.

Carpenter syndrome is typically evident at or shortly after birth. Due to craniosynostosis, the top of the head may appear unusually conical (acrocephaly) or the head may seem short and broad (brachycephaly). In addition, the cranial sutures often fuse unevenly, causing the head and face to appear dissimilar from one side to the other (craniofacial asymmetry). Additional malformations of the skull and facial (craniofacial) region may include downslanting eyelid folds (palpebral fissures); a flat nasal bridge; malformed (dysplastic), low-set ears; and a small, underdeveloped (hypoplastic) upper and/or lower jaw (maxilla and/or mandible).

Individuals with Carpenter syndrome may also have unusually short fingers and toes (brachydactyly); partial fusion of the soft tissues (cutaneous syndactyly) between certain digits; and the presence of extra (supernumerary) toes or, less commonly, additional fingers (polydactyly). In some instances, additional physical abnormalities are present, such as short stature, structural heart malformations (congenital heart defects), mild to moderate obesity, weakening in the abdominal wall near the navel through which the intestine may protrude (umbilical hernia), or failure of the testes to descend into the scrotum (cryptorchidism) in affected males. In addition, many individuals with the disorder are affected by mild to moderate intellectual disability. However, intelligence is normal in some instances. Carpenter syndrome is usually inherited as an autosomal recessive condition.

Organizations related to Carpenter Syndrome

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