14 Carpenter Syndrome
Carpenter Syndrome 614
Acro-cephalo-polysyndactyly Type II, ACPS II
Acrocephaly, peculiar facies, syndactyly of fingers, polysyndactyly of toes, obesity, mental retardation Frequency: Rare.
Genetics
Autosomal recessive (OMIM 201000); Goodman syndrome (OMIM 201220) and Summitt syndrome (OMIM 272350) are within the clinical spectrum of ACPS II.
Clinical Features
• Acrocephaly, asymmetrical turricephaly, promi- nent metopic ridge
• Flat facies, shallow orbits, hypertelorism, epican- thal folds, lateral displacement of medial canthi, downward palpebral fissures, broad cheeks, nar- row maxilla, high palate, low set ears
• Small genitalia
• Genu valgum, lateral position of the patella
• Finger brachydactyly, syndactyly
• Pes varus, broad hallux, preaxial polydactyly of
• Congenital heart disease toes
• Truncal obesity in older patients
• Variable mental retardation Differential Diagnosis
• Goodman syndrome
• Summit syndrome
• Apert syndrome
• Bardet-Biedl syndrome
Radiographic Features Skull
• Craniosynostosis (sagittal and lambdoid sutures first to close)
• Cranial asymmetry (due to unilateral closure of coronal and lambdoid sutures)
• Cloverleaf skull (occasionally)
Hands
• Brachydactyly, stubby fingers
• Short or absent middle phalanges
• Soft tissue syndactyly (mostly involving 3rd and 4th fingers)
• Clinodactyly
• Camptodactyly
• Duplication of the proximal phalanx of the thumbs Feet
• Preaxial polydactyly
• Partial syndactyly
• Short or absent middle phalanges
• Metatarsus varus Extremities
• Genu valgum
• Laterally displaced patella Pelvis
• Flared ilia
• Poorly developed acetabula
• Coxa valga
Bibliography
Cohen DM, Green JG, Miller J, Gorlin RJ, Reed JA. Acro- cephalopolysyndactyly type II-Carpenter syndrome: clini- cal spectrum and an attempt at unification with Goodman and Summitt syndromes. Am J Med Genet 1987; 28: 311–24 Gershoni-Baruch R. Carpenter syndrome: marked variability of expression to include the Summitt and Goodman syn- dromes. Am J Med Genet 1990; 35: 236–40
Richieri-Costa A, Pirolo Junior L, Cohen MM Jr. Carpenter syn- drome with normal intelligence: Brazilian girl born to con- sanguineous parents. Am J Med Genet 1993; 47: 281–3 Robinson LK, James HE, Mubarak SJ, Allen EJ, Jones KL. Car-
penter syndrome: natural history and clinical spectrum.
Am J Med Genet 1985; 20: 461–9
Taravath S, Tonsgard JH. Cerebral malformations in Carpenter syndrome. Pediatr Neurol 1993; 9: 230–4
Carpenter Syndrome 615
C
Fig. 14.1 a–d. Patient 1, 5 years.
aCraniofacial features include hy- pertelorism, shallow orbits, down- ward slanted palpebral fissures, and hypoplastic eyebrows. Note also deformity of the frontal bones and low-set ears. b Small genitalia. c Slightly tapering fin- gers, mild cutaneous syndactyly.
dSyndactyly between toes 2 and 3, with malpositioned 2nd toe
a b
c d
Fig. 14.2. a Patient 2, 15 years.
Note short middle phalanges and dislocation and flexion contrac- ture of the distal interphalangeal joints. An extra ossification center is visible at the metacarpo-pha- langeal joint of the thumb. b Pa- tient 3, 10 years. There are dupli- cation of the phalanges of the great toe, broad 1st metatarsal, and short middle phalanges. (Re- printed, with permission, from Robinson et al. 1985)
a b
