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Long metacarpals

MedGen UID:
866904
Concept ID:
C4021260
Finding
Synonyms: Elongated long bone of hand; Increased length of metacarpals
 
HPO: HP:0010493

Definition

An abnormally increased length of the metacarpal bones. [from HPO]

Term Hierarchy

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

Conditions with this feature

Sotos syndrome
MedGen UID:
61232
Concept ID:
C0175695
Disease or Syndrome
Sotos syndrome is characterized by a distinctive facial appearance (broad and prominent forehead with a dolichocephalic head shape, sparse frontotemporal hair, downslanting palpebral fissures, malar flushing, long and narrow face, long chin); learning disability (early developmental delay, mild-to-severe intellectual impairment); and overgrowth (height and/or head circumference =2 SD above the mean). These three clinical features are considered the cardinal features of Sotos syndrome. Major features of Sotos syndrome include behavioral problems (most notably autistic spectrum disorder), advanced bone age, cardiac anomalies, cranial MRI/CT abnormalities, joint hyperlaxity with or without pes planus, maternal preeclampsia, neonatal complications, renal anomalies, scoliosis, and seizures.
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).

Professional guidelines

PubMed

Du MJ, Lin YH, Chen WT, Zhao H
Eur Rev Med Pharmacol Sci 2022 Nov;26(21):7949-7954. doi: 10.26355/eurrev_202211_30146. PMID: 36394743
Clesham K, Sheridan GA, Murphy EP, O' Connor SP, O' Sullivan ME
J Hand Surg Asian Pac Vol 2022 Feb;27(1):141-147. Epub 2022 Feb 9 doi: 10.1142/S2424835522500138. PMID: 35135420
Badia A
Hand Clin 2006 May;22(2):153-63. doi: 10.1016/j.hcl.2006.02.006. PMID: 16701127

Recent clinical studies

Etiology

McDonald LS, Shupe PG, Hammel N, Kroonen LT
J Hand Surg Am 2012 Sep;37(9):1839-44. Epub 2012 Jul 31 doi: 10.1016/j.jhsa.2012.05.042. PMID: 22854252
Manueddu CA, Della Santa D
J Hand Surg Br 1996 Apr;21(2):230-6. doi: 10.1016/s0266-7681(96)80104-5. PMID: 8732407
Strübbe EH, Thijn CJ, Willemsen WN, Lappöhn R
Skeletal Radiol 1987;16(3):227-31. doi: 10.1007/BF00356958. PMID: 3589740

Diagnosis

McDonald LS, Shupe PG, Hammel N, Kroonen LT
J Hand Surg Am 2012 Sep;37(9):1839-44. Epub 2012 Jul 31 doi: 10.1016/j.jhsa.2012.05.042. PMID: 22854252
Dijkstra PF, Cole TR, Oorthuys JW, Venema HW, Oosting J, Nocker RE
Am J Med Genet 1994 May 15;51(1):55-60. doi: 10.1002/ajmg.1320510113. PMID: 8030671

Clinical prediction guides

Dijkstra PF, Cole TR, Oorthuys JW, Venema HW, Oosting J, Nocker RE
Am J Med Genet 1994 May 15;51(1):55-60. doi: 10.1002/ajmg.1320510113. PMID: 8030671

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