acrocephalopolysyndactyly type II

Carpenter syndrome, also called acrocephalopolysyndactyly type II (ACPS type II) is an extremely rare autosomal recessive congenital disorder.

Clinical spectrum

It is characterized by a number of features which include:

• craniofacial malformations
  • craniosynostoses
  • kleeblattschädel (cloverleaf skull)
• obesity

• congenital cardiac anomalies

• umbilical herniation
• hypogenitalism
• cryptorchidism
• intellectual disability
• limb anomalies
  • genu valgum +/- lateral patella displacement
  • coxa valga
  • pes varus
  • syndactyly: typically soft tissue
  • polydactyly: typically pre axial

  • double ossification center of proximal phalanx of thumb

  • broad first metatarsal

History and etymology

It was first described by G Carpenter in 1909 .

See also

• acrocephalopolysyndactyly syndromes

Siehe auch:

• Hydrocephalus
• Polydaktylie
• Kryptorchismus
• Kraniosynostose
• Syndaktylie
• acrocephalopolysyndactyly

und weiter:

• Apert-Syndrom
• Kleeblattschädel
• acrocephalosyndactyly
• classification of paediatric midface anomalies
• Brachyzephalie
• Polysyndaktylie
• craniofacial syndromes in children
• Greig-Syndrom
• Goodman syndrome