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Synostosis of carpal bones

MedGen UID:
322856
Concept ID:
C1836193
Finding
Synonyms: Carpal bone fusion; Fusion of the wrist bones
 
HPO: HP:0005048

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSynostosis of carpal bones

Conditions with this feature

Acrocephalosyndactyly type I
MedGen UID:
7858
Concept ID:
C0001193
Congenital Abnormality
Apert syndrome is characterized by the presence of multisuture craniosynostosis, midface retrusion, and syndactyly of the hands with fusion of the second through fourth nails. Almost all affected individuals have coronal craniosynostosis, and a majority also have involvement of the sagittal and lambdoid sutures. The midface in Apert syndrome is underdeveloped as well as retruded; a subset of affected individuals have cleft palate. The hand in Apert syndrome always includes fusion of the middle three digits; the thumb and fifth finger are sometimes also involved. Feeding issues, dental abnormalities, hearing loss, hyperhidrosis, and progressive synostosis of multiple bones (skull, hands, feet, carpus, tarsus, and cervical vertebrae) are also common. Multilevel airway obstruction may be present and can be due to narrowing of the nasal passages, tongue-based airway obstruction, and/or tracheal anomalies. Nonprogressive ventriculomegaly is present in a majority of individuals, with a small subset having true hydrocephalus. Most individuals with Apert syndrome have normal intelligence or mild intellectual disability; moderate-to-severe intellectual disability has been reported in some individuals. A minority of affected individuals have structural cardiac abnormalities, true gastrointestinal malformations, and anomalies of the genitourinary tract.
Oto-palato-digital syndrome, type I
MedGen UID:
78542
Concept ID:
C0265251
Disease or Syndrome
The X-linked otopalatodigital (X-OPD) spectrum disorders, characterized primarily by skeletal dysplasia, include the following: Otopalatodigital syndrome type 1 (OPD1). Otopalatodigital syndrome type 2 (OPD2). Frontometaphyseal dysplasia type 1 (FMD1). Melnick-Needles syndrome (MNS). Terminal osseous dysplasia with pigmentary skin defects (TODPD). In OPD1, most manifestations are present at birth; females can present with severity similar to affected males, although some have only mild manifestations. In OPD2, females are less severely affected than related affected males. Most males with OPD2 die during the first year of life, usually from thoracic hypoplasia resulting in pulmonary insufficiency. Males who live beyond the first year of life are usually developmentally delayed and require respiratory support and assistance with feeding. In FMD1, females are less severely affected than related affected males. Males do not experience a progressive skeletal dysplasia but may have joint contractures and hand and foot malformations. Progressive scoliosis is observed in both affected males and females. In MNS, wide phenotypic variability is observed; some individuals are diagnosed in adulthood, while others require respiratory support and have reduced longevity. MNS in males results in perinatal lethality in all recorded cases. TODPD, seen only in females, is characterized by a skeletal dysplasia that is most prominent in the digits, pigmentary defects of the skin, and recurrent digital fibromata.
Acropectorovertebral dysplasia
MedGen UID:
400262
Concept ID:
C1863307
Disease or Syndrome
Acropectorovertebral dysgenesis, or F syndrome, is an autosomal dominant skeletal dysplasia characterized by carpal and tarsal synostoses, syndactyly between the first and second fingers, hypodactyly and polydactyly of feet, and abnormalities of the sternum and spine (summary by Thiele et al., 2004).

Professional guidelines

Recent clinical studies

Etiology

Alessandri JL, Celse T, Spodenkiewicz M, Calaya A, Dumont C, Jacquemont ML, Bertaut-Nativel B, Boumahni B, Rémy M, Ferroul F, Guilly S, Huby T, Irabé M, Laurens T, Munier P, Morel G, Payet F, Randrianaivo H, Doray B, Dospeux J
Eur J Med Genet 2024 Jun;69:104940. Epub 2024 May 3 doi: 10.1016/j.ejmg.2024.104940. PMID: 38705458
Park JJ, Seok HG, Woo IH, Park CH
Sci Rep 2022 Dec 13;12(1):21567. doi: 10.1038/s41598-022-26049-6. PMID: 36513745Free PMC Article
Della Rosa N, Bertozzi N, Annoscia P, Adani R
Plast Reconstr Surg 2022 Dec 1;150(6):1283e-1292e. Epub 2022 Sep 20 doi: 10.1097/PRS.0000000000009736. PMID: 36126203
Mahjoub S, Lahmar AA, Miladi M, Abdelkafi M, Mbarek M
Joint Bone Spine 2018 May;85(3):371. Epub 2017 Jul 13 doi: 10.1016/j.jbspin.2017.07.001. PMID: 28713069
Baek GH, Kim J
J Hand Surg Asian Pac Vol 2016 Oct;21(3):283-91. doi: 10.1142/S2424835516400087. PMID: 27595943

Diagnosis

Alessandri JL, Celse T, Spodenkiewicz M, Calaya A, Dumont C, Jacquemont ML, Bertaut-Nativel B, Boumahni B, Rémy M, Ferroul F, Guilly S, Huby T, Irabé M, Laurens T, Munier P, Morel G, Payet F, Randrianaivo H, Doray B, Dospeux J
Eur J Med Genet 2024 Jun;69:104940. Epub 2024 May 3 doi: 10.1016/j.ejmg.2024.104940. PMID: 38705458
Park JJ, Seok HG, Woo IH, Park CH
Sci Rep 2022 Dec 13;12(1):21567. doi: 10.1038/s41598-022-26049-6. PMID: 36513745Free PMC Article
Phyo N, Pressney I, Khoo M, Welck M, Saifuddin A
Skeletal Radiol 2020 Sep;49(9):1413-1422. Epub 2020 Apr 14 doi: 10.1007/s00256-020-03440-w. PMID: 32291474
Mahjoub S, Lahmar AA, Miladi M, Abdelkafi M, Mbarek M
Joint Bone Spine 2018 May;85(3):371. Epub 2017 Jul 13 doi: 10.1016/j.jbspin.2017.07.001. PMID: 28713069
Swensen SJ, Otsuka NY
Foot Ankle Clin 2015 Dec;20(4):669-79. doi: 10.1016/j.fcl.2015.08.001. PMID: 26589085

Therapy

Della Rosa N, Bertozzi N, Annoscia P, Adani R
Plast Reconstr Surg 2022 Dec 1;150(6):1283e-1292e. Epub 2022 Sep 20 doi: 10.1097/PRS.0000000000009736. PMID: 36126203
Hollander JJ, Dusoswa QF, Dahmen J, Sullivan N, Kerkhoffs GMMJ, Stufkens SAS
Foot Ankle Surg 2022 Oct;28(7):1110-1119. Epub 2022 Mar 24 doi: 10.1016/j.fas.2022.03.011. PMID: 35397990
Westergaard-Nielsen M, Amstrup T, Wanscher JH, Brusgaard K, Ousager LB
Int J Pediatr Otorhinolaryngol 2018 May;108:208-212. Epub 2018 Mar 14 doi: 10.1016/j.ijporl.2018.03.008. PMID: 29605356
Kuss P, Kraft K, Stumm J, Ibrahim D, Vallecillo-Garcia P, Mundlos S, Stricker S
Dev Biol 2014 Jan 1;385(1):83-93. Epub 2013 Oct 23 doi: 10.1016/j.ydbio.2013.10.013. PMID: 24161848
McCredie J
Clin Radiol 1975 Jan;26(1):47-51. doi: 10.1016/s0009-9260(75)80011-0. PMID: 1122695

Prognosis

Shao J, Liu Y, Zhao S, Sun W, Zhan J, Cao L
BMC Pediatr 2022 Sep 5;22(1):528. doi: 10.1186/s12887-022-03564-z. PMID: 36064339Free PMC Article
Fukushima K, Parthasarathy P, Wade EM, Morgan T, Gowrishankar K, Markie DM, Robertson SP
Genes (Basel) 2021 Apr 5;12(4) doi: 10.3390/genes12040528. PMID: 33916386Free PMC Article
Albtoush OM, Al-Badayneh B, Guglielmi G, Horger M, Springer F
Rofo 2019 May;191(5):446-449. Epub 2018 Nov 12 doi: 10.1055/a-0729-2927. PMID: 30419573
Mahjoub S, Lahmar AA, Miladi M, Abdelkafi M, Mbarek M
Joint Bone Spine 2018 May;85(3):371. Epub 2017 Jul 13 doi: 10.1016/j.jbspin.2017.07.001. PMID: 28713069
Rumball KM, Pang E, Letts RM
J Pediatr Orthop B 1999 Apr;8(2):139-43. PMID: 10218180

Clinical prediction guides

Della Rosa N, Bertozzi N, Annoscia P, Adani R
Plast Reconstr Surg 2022 Dec 1;150(6):1283e-1292e. Epub 2022 Sep 20 doi: 10.1097/PRS.0000000000009736. PMID: 36126203
Ellsworth BK, Kehoe C, DeFrancesco CJ, Bogner E, Mintz DN, Scher DM
J Pediatr Orthop 2022 Jul 1;42(6):e612-e615. Epub 2022 Mar 10 doi: 10.1097/BPO.0000000000002129. PMID: 35667053
Zhang Z, Lu Y, Cao JY, Wang L, Li LK, Wang C, Ye X, Ji YM, Tu LY, Sun Y
Mol Genet Genomic Med 2022 May;10(5):e1933. Epub 2022 Mar 25 doi: 10.1002/mgg3.1933. PMID: 35332702Free PMC Article
Saccheri P, Sabbadini G, Crivellato E, Canci A, Toso F, Travan L
Folia Morphol (Warsz) 2017;76(2):149-156. Epub 2016 Nov 4 doi: 10.5603/FM.a2016.0068. PMID: 27813627
Baek GH, Kim J
J Hand Surg Asian Pac Vol 2016 Oct;21(3):283-91. doi: 10.1142/S2424835516400087. PMID: 27595943

Recent systematic reviews

Hollander JJ, Dusoswa QF, Dahmen J, Sullivan N, Kerkhoffs GMMJ, Stufkens SAS
Foot Ankle Surg 2022 Oct;28(7):1110-1119. Epub 2022 Mar 24 doi: 10.1016/j.fas.2022.03.011. PMID: 35397990

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