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Metacarpophalangeal joint hyperextensibility

MedGen UID:
Concept ID:
Anatomical Abnormality
HPO: HP:0006099


Increased mobility of one ore more metacarpophalangeal joint. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMetacarpophalangeal joint hyperextensibility

Conditions with this feature

Fragile X syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
FMR1 disorders include fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), and fragile X-associated primary ovarian insufficiency (FXPOI). Fragile X syndrome occurs in individuals with an FMR1 full mutation or other loss-of-function variant and is nearly always characterized in affected males by developmental delay and intellectual disability along with a variety of behavioral issues. Autism spectrum disorder is present in 50%-70% of individuals with FXS. Affected males may have characteristic craniofacial features (which become more obvious with age) and medical problems including hypotonia, gastroesophageal reflux, strabismus, seizures, sleep disorders, joint laxity, pes planus, scoliosis, and recurrent otitis media. Adults may have mitral valve prolapse or aortic root dilatation. The physical and behavioral features seen in males with FXS have been reported in females heterozygous for the FMR1 full mutation, but with lower frequency and milder involvement. FXTAS occurs in individuals who have an FMR1 premutation and is characterized by late-onset, progressive cerebellar ataxia and intention tremor followed by cognitive impairment. Psychiatric disorders are common. Age of onset is typically between 60 and 65 years and is more common among males who are hemizygous for the premutation (40%) than among females who are heterozygous for the premutation (16%-20%). FXPOI, defined as hypergonadotropic hypogonadism before age 40 years, has been observed in 20% of women who carry a premutation allele compared to 1% in the general population.
Ehlers-Danlos syndrome, type 4
MedGen UID:
Concept ID:
Disease or Syndrome
Vascular Ehlers-Danlos syndrome (vEDS) is characterized by arterial, intestinal, and/or uterine fragility; thin, translucent skin; easy bruising; characteristic facial appearance (thin vermilion of the lips, micrognathia, narrow nose, prominent eyes); and an aged appearance to the extremities, particularly the hands. Vascular dissection or rupture, gastrointestinal perforation, or organ rupture are the presenting signs in most adults with vEDS. Arterial rupture may be preceded by aneurysm, arteriovenous fistulae, or dissection but also may occur spontaneously. The majority (60%) of individuals with vEDS who are diagnosed before age 18 years are identified because of a positive family history. Neonates may present with clubfoot, hip dislocation, limb deficiency, and/or amniotic bands. Approximately half of children tested for vEDS in the absence of a positive family history present with a major complication at an average age of 11 years. Four minor diagnostic features – distal joint hypermobility, easy bruising, thin skin, and clubfeet – are most often present in those children ascertained without a major complication.
Larsen-like syndrome, B3GAT3 type
MedGen UID:
Concept ID:
Disease or Syndrome
CHST3-related skeletal dysplasia is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), clubfeet, and limitation of range of motion that can involve all large joints. Kyphosis and occasionally scoliosis with slight shortening of the trunk develop in childhood. Minor heart valve dysplasia has been described in several persons. Intellect and vision are normal.

Recent clinical studies


Wong YC, Ho PC
J Hand Surg Asian Pac Vol 2019 Sep;24(3):347-352. doi: 10.1142/S2424835519500449. PMID: 31438798
Stanley EA, Seifman MA, Mills B, Fay P, Thomas DJ
Ann Plast Surg 2019 May;82(5):520-522. doi: 10.1097/SAP.0000000000001820. PMID: 30882419
Lee LS, Lee HM, Hou YT, Hung ST, Chen JK, Shih JT
J Trauma 2008 Jul;65(1):116-22. doi: 10.1097/TA.0b013e3181454ad4. PMID: 18580519
Hofer SO, Robinson PH
J Hand Surg Br 1999 Aug;24(4):468-70. doi: 10.1054/jhsb.1999.0157. PMID: 10473160

Clinical prediction guides

Wong YC, Ho PC
J Hand Surg Asian Pac Vol 2019 Sep;24(3):347-352. doi: 10.1142/S2424835519500449. PMID: 31438798

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