Short fifth metacarpals-insulin resistance syndrome

MedGen UID:: 929290
•Concept ID:: C4303621
•: Disease or Syndrome

Synonyms:	Short fifth metacarpal insulin resistance syndrome; short fifth metacarpals-insulin resistance syndrome
SNOMED CT:	Short fifth metacarpal insulin resistance syndrome (721069005)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0019017
Orphanet:	ORPHA66518

Definition

This syndrome has characteristics of bilateral shortening of the fifth fingers and fifth metacarpals. It has been described in several members of one family. Some members of the family also had spherocytosis and insulin resistance. Transmission is autosomal dominant. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVShort fifth metacarpals-insulin resistance syndrome

Pathological process
- Disease
  - Disorder by Site
    - Disorder of endocrine system
      - Endocrine Syndrome
        Rare insulin-resistance syndrome
        Short fifth metacarpals-insulin resistance syndrome

Professional guidelines

PubMed

Increasing mean arterial pressure or cardiac output in comatose out-of-hospital cardiac arrest patients undergoing targeted temperature management: Effects on cerebral tissue oxygenation and systemic hemodynamics.

Grand J, Wiberg S, Kjaergaard J, Wanscher M, Hassager C
Resuscitation 2021 Nov;168:199-205. Epub 2021 Aug 27 doi: 10.1016/j.resuscitation.2021.08.037. PMID: 34461205

Impact of Platelet Endothelial Aggregation Receptor-1 Genotypes on Platelet Reactivity and Early Cardiovascular Outcomes in Patients Undergoing Percutaneous Coronary Intervention and Treated With Aspirin and Clopidogrel.

Xu K, Ye S, Zhang S, Yang M, Zhu T, Kong D, Chen J, Xu L, Li J, Zhu H, Wang F, Yang L, Zhang J, Fan Y, Ying L, Hu X, Zhang X, Chan NC, Li C
Circ Cardiovasc Interv 2019 May;12(5):e007019. doi: 10.1161/CIRCINTERVENTIONS.118.007019. PMID: 31018667

See all (2)

Recent clinical studies

Etiology

Grand J, Wiberg S, Kjaergaard J, Wanscher M, Hassager C
Resuscitation 2021 Nov;168:199-205. Epub 2021 Aug 27 doi: 10.1016/j.resuscitation.2021.08.037. PMID: 34461205

A phase 1 study of anti-TGFβ receptor type-II monoclonal antibody LY3022859 in patients with advanced solid tumors.

Tolcher AW, Berlin JD, Cosaert J, Kauh J, Chan E, Piha-Paul SA, Amaya A, Tang S, Driscoll K, Kimbung R, Kambhampati SR, Gueorguieva I, Hong DS
Cancer Chemother Pharmacol 2017 Apr;79(4):673-680. Epub 2017 Mar 9 doi: 10.1007/s00280-017-3245-5. PMID: 28280971 Free PMC Article

Association of Sleep Deprivation With Reduction in Insulin Sensitivity as Assessed by the Hyperglycemic Clamp Technique in Adolescents.

De Bernardi Rodrigues AM, da Silva Cde C, Vasques AC, Camilo DF, Barreiro F, Cassani RS, Zambon MP, Antonio MÂ, Geloneze B; Brazilian Metabolic Syndrome Study (BRAMS) Investigators
JAMA Pediatr 2016 May 1;170(5):487-94. doi: 10.1001/jamapediatrics.2015.4365. PMID: 26999405

Menstrual cycle length, serum lipids and lipoproteins in a cohort of Italian Mediterranean women: findings from Progetto ATENA.

Rubba F, Mattiello A, Chiodini P, Celentano E, Galasso R, Ciardullo AV, Gentile M, Triassi M, Rubba P, Panico S
Nutr Metab Cardiovasc Dis 2008 Dec;18(10):659-63. Epub 2008 May 2 doi: 10.1016/j.numecd.2007.12.004. PMID: 18450435

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Diagnosis

Transient metabolic improvement in obese mice treated with navitoclax or dasatinib/quercetin.

Sierra-Ramirez A, López-Aceituno JL, Costa-Machado LF, Plaza A, Barradas M, Fernandez-Marcos PJ
Aging (Albany NY) 2020 Jun 25;12(12):11337-11348. doi: 10.18632/aging.103607. PMID: 32584785 Free PMC Article

Association of Sleep Deprivation With Reduction in Insulin Sensitivity as Assessed by the Hyperglycemic Clamp Technique in Adolescents.

Familial short fifth metacarpals and insulin resistance.

Hyari M, Hamamy H, Barham M, Al-Hadidy A, Ajlouni K
Skeletal Radiol 2006 Sep;35(9):702-5. Epub 2005 Aug 13 doi: 10.1007/s00256-005-0939-2. PMID: 16132981

Longlasting antalgic effects of daily sessions of repetitive transcranial magnetic stimulation in central and peripheral neuropathic pain.

Khedr EM, Kotb H, Kamel NF, Ahmed MA, Sadek R, Rothwell JC
J Neurol Neurosurg Psychiatry 2005 Jun;76(6):833-8. doi: 10.1136/jnnp.2004.055806. PMID: 15897507 Free PMC Article

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Therapy

Transient metabolic improvement in obese mice treated with navitoclax or dasatinib/quercetin.

A phase 1 study of anti-TGFβ receptor type-II monoclonal antibody LY3022859 in patients with advanced solid tumors.

Bile acid replacement therapy with cholylsarcosine for short-bowel syndrome.

Heydorn S, Jeppesen PB, Mortensen PB
Scand J Gastroenterol 1999 Aug;34(8):818-23. doi: 10.1080/003655299750025769. PMID: 10499484

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Prognosis

Association of Sleep Deprivation With Reduction in Insulin Sensitivity as Assessed by the Hyperglycemic Clamp Technique in Adolescents.

Longlasting antalgic effects of daily sessions of repetitive transcranial magnetic stimulation in central and peripheral neuropathic pain.

Khedr EM, Kotb H, Kamel NF, Ahmed MA, Sadek R, Rothwell JC
J Neurol Neurosurg Psychiatry 2005 Jun;76(6):833-8. doi: 10.1136/jnnp.2004.055806. PMID: 15897507 Free PMC Article

See all (3)