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Slender metacarpals

MedGen UID:
870626
Concept ID:
C4025077
Anatomical Abnormality
Synonym: Slender long bones of hand
 
HPO: HP:0006236

Definition

Decreased width of the metacarpal bones (that is, reduced diameter). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSlender metacarpals

Conditions with this feature

Van den Ende-Gupta syndrome
MedGen UID:
322127
Concept ID:
C1833136
Disease or Syndrome
Van den Ende-Gupta syndrome (VDEGS) is an autosomal recessive disorder characterized by severe contractual arachnodactyly from birth and distinctive facial dysmorphism, including triangular face, malar hypoplasia, narrow nose, everted lips, and blepharophimosis. Skeletal anomalies include slender ribs, hooked clavicles, and dislocated radial head. There is no neurologic involvement (summary by Patel et al., 2014).
Brachydactyly type A1
MedGen UID:
354673
Concept ID:
C1862151
Disease or Syndrome
In the classification of the brachydactylies, the analysis by Bell (1951) proved highly useful. The type A brachydactylies of Bell have the shortening confined mainly to the middle phalanges. In the brachydactyly A1 type (BDA1), the middle phalanges of all the digits are rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. Genetic Heterogeneity of Brachydactyly Type A1 BDA1B (607004) has been mapped to chromosome 5. BDA1C (615072) is caused by mutation in the GDF5 gene (601146) on chromosome 20q11. BDA1D (616849) is caused by mutation in the BMPR1B gene (603248) on chromosome 4q22.
Garg-Mishra progeroid syndrome
MedGen UID:
1847272
Concept ID:
C5882717
Disease or Syndrome
Garg-Mishra progeroid syndrome (GMPGS) is characterized by severe dwarfism, mandibular hypoplasia, microphthalmia, hyperopia, and partial lipodystrophy (summary by Garg et al., 2022).

Professional guidelines

PubMed

Halkier-Sørensen L, Laurberg G, Andresen J
J Am Acad Dermatol 1987 May;16(5 Pt 1):999-1006. doi: 10.1016/s0190-9622(87)70129-7. PMID: 3584585

Recent clinical studies

Etiology

Pandey N, Bhola S, Goldstone A, Chen F, Chrzanowski J, Terranova CJ, Ghillani R, Jepsen KJ
J Bone Miner Res 2009 Dec;24(12):1969-80. doi: 10.1359/jbmr.090525. PMID: 20001599Free PMC Article

Diagnosis

Bhola S, Chen J, Fusco J, Duarte GF, Andarawis-Puri N, Ghillani R, Jepsen KJ
Bone 2011 Oct;49(4):799-809. Epub 2011 Jul 23 doi: 10.1016/j.bone.2011.07.018. PMID: 21810492Free PMC Article
Kim OH, Cho TJ, Song HR, Chung CY, Miyagawa S, Nishimura G, Superti-Furga A, Unger S
Skeletal Radiol 2009 Aug;38(8):803-11. Epub 2009 Mar 11 doi: 10.1007/s00256-009-0671-4. PMID: 19277648

Prognosis

Bhola S, Chen J, Fusco J, Duarte GF, Andarawis-Puri N, Ghillani R, Jepsen KJ
Bone 2011 Oct;49(4):799-809. Epub 2011 Jul 23 doi: 10.1016/j.bone.2011.07.018. PMID: 21810492Free PMC Article
Pandey N, Bhola S, Goldstone A, Chen F, Chrzanowski J, Terranova CJ, Ghillani R, Jepsen KJ
J Bone Miner Res 2009 Dec;24(12):1969-80. doi: 10.1359/jbmr.090525. PMID: 20001599Free PMC Article

Clinical prediction guides

Tüysüz B, Yılmaz S, Erener-Ercan T, Bilguvar K, Günel M
Pediatr Radiol 2015 Apr;45(5):771-6. Epub 2014 Sep 26 doi: 10.1007/s00247-014-3159-x. PMID: 25256152
Bhola S, Chen J, Fusco J, Duarte GF, Andarawis-Puri N, Ghillani R, Jepsen KJ
Bone 2011 Oct;49(4):799-809. Epub 2011 Jul 23 doi: 10.1016/j.bone.2011.07.018. PMID: 21810492Free PMC Article
Pandey N, Bhola S, Goldstone A, Chen F, Chrzanowski J, Terranova CJ, Ghillani R, Jepsen KJ
J Bone Miner Res 2009 Dec;24(12):1969-80. doi: 10.1359/jbmr.090525. PMID: 20001599Free PMC Article

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