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Short tubular bones of the hand

MedGen UID:
871307
Concept ID:
C4025795
Anatomical Abnormality; Finding
Synonym: Shortened short tubular bones of the hand
 
HPO: HP:0001248

Definition

Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVShort tubular bones of the hand

Conditions with this feature

Achondrogenesis type II
MedGen UID:
66315
Concept ID:
C0220685
Congenital Abnormality
Achondrogenesis type II (ACG2) is characterized by severe micromelic dwarfism with small chest and prominent abdomen, incomplete ossification of the vertebral bodies, and disorganization of the costochondral junction. ACG2 is an autosomal dominant trait occurring mostly as new mutations. However, somatic and germline mosaicism have been reported (summary by Comstock et al., 2010).
Spondylometaphyseal dysplasia, Schmidt type
MedGen UID:
356595
Concept ID:
C1866688
Disease or Syndrome
Spondylometaphyseal dysplasia, Schmidt type has characteristics of short stature, myopia, small pelvis, progressive kyphoscoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet. This condition has been reported in five members of an Algerian family and one Polish boy. Autosomal dominant inheritance has been suggested, but the causative gene has not yet been identified.

Recent clinical studies

Etiology

Park HY, Joo MW, Choi YH, Chung YG, Park CJ
Sci Rep 2023 Feb 6;13(1):2081. doi: 10.1038/s41598-023-29130-w. PMID: 36747044Free PMC Article
Dhamangaonkar AC, Sathe A, Banerjee S
J Hand Surg Asian Pac Vol 2020 Mar;25(1):114-118. doi: 10.1142/S2424835520720029. PMID: 32000601
de Wijn EM, Steendijk R
Acta Paediatr Scand 1982 Jul;71(4):657-60. doi: 10.1111/j.1651-2227.1982.tb09492.x. PMID: 7136683
de Wijn EM, Steendijk R
Acta Endocrinol (Copenh) 1982 Oct;101(2):223-6. doi: 10.1530/acta.0.1010223. PMID: 7136449

Diagnosis

Dhamangaonkar AC, Sathe A, Banerjee S
J Hand Surg Asian Pac Vol 2020 Mar;25(1):114-118. doi: 10.1142/S2424835520720029. PMID: 32000601
Abe K, Kumagai K, Hayashi T, Kinoshita N, Shindo H, Uetani M, Ishida T
Skeletal Radiol 2007 Sep;36(9):869-73. Epub 2007 Apr 5 doi: 10.1007/s00256-007-0288-4. PMID: 17410355
Garza-Mercado R, Cavazos E, Hernández-Batres F
Neurosurgery 1984 Aug;15(2):228-32. doi: 10.1227/00006123-198408000-00012. PMID: 6483139

Prognosis

Park HY, Joo MW, Choi YH, Chung YG, Park CJ
Sci Rep 2023 Feb 6;13(1):2081. doi: 10.1038/s41598-023-29130-w. PMID: 36747044Free PMC Article
Abe K, Kumagai K, Hayashi T, Kinoshita N, Shindo H, Uetani M, Ishida T
Skeletal Radiol 2007 Sep;36(9):869-73. Epub 2007 Apr 5 doi: 10.1007/s00256-007-0288-4. PMID: 17410355
Nishimura G, Honma T, Shiihara T, Manabe N, Nakajima E, Adachi M, Mikawa M, Fukushima Y, Ikegawa S
Am J Med Genet A 2003 Mar 1;117A(2):147-53. doi: 10.1002/ajmg.a.10927. PMID: 12567412

Clinical prediction guides

Park HY, Joo MW, Choi YH, Chung YG, Park CJ
Sci Rep 2023 Feb 6;13(1):2081. doi: 10.1038/s41598-023-29130-w. PMID: 36747044Free PMC Article
de Wijn EM, Steendijk R
Acta Endocrinol (Copenh) 1982 Oct;101(2):223-6. doi: 10.1530/acta.0.1010223. PMID: 7136449

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