Details of Disease

General Information of Disease (ID: DISU690E)

Disease Name Carpenter syndrome
Synonyms acrocephalosyndactyly, type II; acrocephalopolysyndactyly type II; Carpenter syndrome; acrocephalopolysyndactyly type 2; Carpenter 's syndrome; ACPS2; type II Acrocephalopolysyndactyly
Definition
An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation.
Disease Hierarchy
DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
DISKE9JR: Acrocephalopolysyndactyly
DISU690E: Carpenter syndrome
Disease Identifiers
MONDO ID
MONDO_0019012
MESH ID
C563187
UMLS CUI
C1275078
MedGen ID
226897
Orphanet ID
65759
SNOMED CT ID
403767009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MEGF8 OT5G38CH Supportive Autosomal recessive [1]
RAB23 OTBAKFBR Supportive Autosomal recessive [2]
AASDHPPT OTA6OR6C Strong Genetic Variation [3]
ARL13B OT9PYPV1 Strong Biomarker [4]
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References

1 Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization. Am J Hum Genet. 2012 Nov 2;91(5):897-905. doi: 10.1016/j.ajhg.2012.08.027. Epub 2012 Oct 11.
2 RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. Am J Hum Genet. 2007 Jun;80(6):1162-70. doi: 10.1086/518047. Epub 2007 Apr 18.
3 Acrocephalopolysyndactyly type II--Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes.Am J Med Genet. 1987 Oct;28(2):311-24. doi: 10.1002/ajmg.1320280208.
4 Small GTPases in hedgehog signalling: emerging insights into the disease mechanisms of Rab23-mediated and Arl13b-mediated ciliopathies.Curr Opin Genet Dev. 2019 Jun;56:61-68. doi: 10.1016/j.gde.2019.07.009. Epub 2019 Aug 27.