Carpenter syndrome

Carpenter syndrome Classification and external resources
OMIM	201000
DiseasesDB	29583

Carpenter syndrome, also called acrocephalopolysyndactyly type II, is an extremely rare autosomal recessive craniofacial disorder.^[1]

It was first characterized in 1909.^[2] There are currently around 41 reported cases.^{[citation needed]}

[edit] Presentation

Carpenter syndrome is characterized by:

Mental deficiency is also common with Carpenter syndrome, although a few patients may have an average intellectual capacity.^{[citation needed]}

Carpenter syndrome has an autosomal recessive pattern of inheritance.

It has been associated with RAB23.^[3]

^ Perlyn CA, Marsh JL (2008). "Craniofacial dysmorphology of Carpenter syndrome: lessons from three affected siblings". Plast Reconstr Surg. 121 (3): 971–981. PMID 18317146.
^ Carpenter, G. Case of acrocephaly with other congenital malformations. Proc. Roy. Soc. Med. 2: 45-53 and 199-201, 1909.
^ Jenkins D, Seelow D, Jehee FS, et al (2007). "RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity". Am. J. Hum. Genet. 80 (6): 1162–70. doi:10.1086/518047. PMID 17503333.

v • d • e Congenital abnormality - multiple abnormalities (Q87, 759.7)

Facial	Acrocephalosyndactylia (Apert syndrome, Saethre-Chotzen syndrome, Pfeiffer syndrome, Carpenter syndrome, Sakati-Nyhan-Tisdale syndrome) - Mobius syndrome - Goldenhar syndrome - Cyclopia

Short stature	Aarskog-Scott syndrome - Cockayne syndrome - Cornelia de Lange Syndrome - Dubowitz syndrome - Noonan syndrome - Robinow syndrome - Silver-Russell dwarfism - Seckel syndrome - Smith-Lemli-Opitz syndrome

Limbs	Adducted thumb syndrome - Holt-Oram syndrome - Klippel-Trenaunay-Weber syndrome - Nail-patella syndrome - Rubinstein-Taybi syndrome - Sirenomelia - VACTERL association

Overgrowth	Beckwith-Wiedemann syndrome - Sotos syndrome - Weaver syndrome

Collagen	Alport syndrome

Combined/other, known locus	3 (Zimmerman-Laband syndrome) - 4/13 (Fraser syndrome) - 8 (Branchio-oto-renal syndrome) - 11/16 (Bardet-Biedl syndrome) - 12 (Keutel syndrome, Timothy syndrome) - 15 (Marfan syndrome) - 19 (Donohue syndrome)

Combined/other, unknown locus	Ablepharon macrostomia syndrome - Fountain syndrome - Urban-Rogers-Meyer syndrome - Vici syndrome - Yunis-Varon syndrome - Zori Stalker Williams syndrome