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Carney complex - trismus - pseudocamptodactyly syndrome

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Carney complex variant
Gene (location): MYH8 (17p13.1)
Monarch Initiative: MONDO:0012137
OMIM®: 608837
Orphanet: ORPHA319340


Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities). [from ORDO]

Clinical features

From HPO
Cardiac myxoma
MedGen UID:
Concept ID:
Neoplastic Process
A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origin and general project from the endocardium into a cardiac chamber.
MedGen UID:
Concept ID:
Disease or Syndrome
Limitation in the ability to open the mouth.
Distal arthrogryposis
MedGen UID:
Concept ID:
Disease or Syndrome
An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCarney complex - trismus - pseudocamptodactyly syndrome
Follow this link to review classifications for Carney complex - trismus - pseudocamptodactyly syndrome in Orphanet.

Recent clinical studies


Minzer-Conzetti K, Wu E, Vargervik K, Slavotinek A
Clin Dysmorphol 2008 Jan;17(1):1-4. doi: 10.1097/MCD.0b013e3282efdad8. PMID: 18049072

Clinical prediction guides

Veugelers M, Bressan M, McDermott DA, Weremowicz S, Morton CC, Mabry CC, Lefaivre JF, Zunamon A, Destree A, Chaudron JM, Basson CT
N Engl J Med 2004 Jul 29;351(5):460-9. doi: 10.1056/NEJMoa040584. PMID: 15282353

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