Acrocephalosyndactylia
Encyclopedia
Acrocephalosyndactylia is the common presentation of craniosynostosis
Craniosynostosis
Craniosynostosis is a condition in which one or more of the fibrous sutures in an infant skull prematurely fuses by ossification, thereby changing the growth pattern of the skull...

 and syndactyly
Syndactyly
Syndactyly is a condition wherein two or more digits are fused together. It occurs normally in some mammals, such as the siamang and kangaroo, but is an unusual condition in humans.-Classification:...

.

Classification

It has several different types:
  • type 1 - Apert syndrome
    Apert syndrome
    Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first branchial arch, the precursor of the maxilla and mandible...

  • type 2 - Apert syndrome
  • type 3 - Saethre-Chotzen syndrome
    Saethre-Chotzen syndrome
    Saethre-Chotzen syndrome , also known as acrocephalosyndactyly type 3 and Chotzen syndrome, is a very rare autosomal dominant congenital disorder characterized by acrocephalosyndactyly, craniosynostosis...

  • type 5 - Pfeiffer syndrome
    Pfeiffer syndrome
    Pfeiffer syndrome is a rare genetic disorder characterized by the premature fusion of certain bones of the skull , which prevents further growth of the skull and affects the shape of the head and face...



A related term, "acrocephalopolysyndactyly" (ACPS), refers to the inclusion of polydactyly
Polydactyly
Polydactyly or polydactylism , also known as hyperdactyly, is a congenital physical anomaly in humans, dogs, and cats having supernumerary fingers or toes....

 to the presentation. It also has multiple types:
  • type 1 - Noack syndrome; now classified with Pfeiffer syndrome
  • type 2 - Carpenter syndrome
    Carpenter syndrome
    Carpenter syndrome, also called acrocephalopolysyndactyly type II, is an extremely rare autosomal recessive congenital disorder characterized by craniofacial malformations, obesity, and syndactyly.It was first characterized in 1909.-Presentation:...

  • type 3 - Sakati-Nyhan-Tisdale syndrome
    Sakati-Nyhan-Tisdale syndrome
    Sakati-Nyhan-Tisdale Syndrome, also called acrocephalopolysyndactyly type III, is a rare genetic disorder that has been associated with abnormalities in the bones of the legs, congenital heart defects and craniofacial defects...

  • type 4 - Goodman syndrome; now classified with Carpenter syndrome
  • type 5 - Pfeiffer syndrome


It has been suggested that the distinction between "acrocephalosyndactyly" versus "acrocephalopolysyndactyly" should be abandoned.
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