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Split hand-foot malformation 2(SHFD2; SHFM2)

MedGen UID:
326848
Concept ID:
C1839258
Disease or Syndrome
Synonyms: Split hand foot anomaly - X-linked; Split hand foot deformity 2; Split hand/foot malformation X-linked; SPLIT-HAND/FOOT MALFORMATION 2; SPLIT-HAND/SPLIT-FOOT ANOMALY, X-LINKED
 
Monarch Initiative: MONDO:0010736
OMIM®: 313350

Definition

Split-hand/split-foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals (Elliott and Evans, 2006). For additional phenotypic information and a discussion of genetic heterogeneity of split-hand/split-foot malformation, see SHFM1 (183600). [from OMIM]

Clinical features

From HPO
Finger syndactyly
MedGen UID:
65139
Concept ID:
C0221352
Congenital Abnormality
Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism".
Split foot
MedGen UID:
140919
Concept ID:
C0432028
Congenital Abnormality
A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.
Short phalanx of finger
MedGen UID:
163753
Concept ID:
C0877165
Finding
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Short metacarpal
MedGen UID:
323064
Concept ID:
C1837084
Anatomical Abnormality
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Split hand
MedGen UID:
397570
Concept ID:
C2699510
Congenital Abnormality
A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.

Professional guidelines

PubMed

Stoll C, Wiesel A, Queisser-Luft A, Froster U, Bianca S, Clementi M
Prenat Diagn 2000 Oct;20(10):811-8. doi: 10.1002/1097-0223(200010)20:10<811::aid-pd927>3.0.co;2-j. PMID: 11038459

Recent clinical studies

Etiology

Paththinige CS, Sirisena ND, Escande F, Manouvrier S, Petit F, Dissanayake VHW
BMC Med Genet 2019 Jun 14;20(1):108. doi: 10.1186/s12881-019-0839-2. PMID: 31200655Free PMC Article
Guero S, Holder-Espinasse M
J Hand Surg Eur Vol 2019 Jan;44(1):80-87. Epub 2018 Oct 31 doi: 10.1177/1753193418807375. PMID: 30380990
Shi Y, Zhang B, Kong F, Li X
Medicine (Baltimore) 2018 Jul;97(29):e11471. doi: 10.1097/MD.0000000000011471. PMID: 30024522Free PMC Article
Rasmussen MB, Kreiborg S, Jensen P, Bak M, Mang Y, Lodahl M, Budtz-Jørgensen E, Tommerup N, Tranebjærg L, Rendtorff ND
Hum Genet 2016 Mar;135(3):345-57. Epub 2016 Feb 2 doi: 10.1007/s00439-016-1635-0. PMID: 26839112
Elliott AM, Reed MH, Chudley AE, Chodirker BN, Evans JA
Am J Med Genet A 2006 Jul 1;140(13):1428-39. doi: 10.1002/ajmg.a.31245. PMID: 16673359

Diagnosis

Paththinige CS, Sirisena ND, Escande F, Manouvrier S, Petit F, Dissanayake VHW
BMC Med Genet 2019 Jun 14;20(1):108. doi: 10.1186/s12881-019-0839-2. PMID: 31200655Free PMC Article
Yang X, Lin X, Zhu Y, Luo J, Lin G
Mol Med Rep 2018 Jun;17(6):7553-7558. Epub 2018 Mar 29 doi: 10.3892/mmr.2018.8838. PMID: 29620206Free PMC Article
Rasmussen MB, Kreiborg S, Jensen P, Bak M, Mang Y, Lodahl M, Budtz-Jørgensen E, Tommerup N, Tranebjærg L, Rendtorff ND
Hum Genet 2016 Mar;135(3):345-57. Epub 2016 Feb 2 doi: 10.1007/s00439-016-1635-0. PMID: 26839112
Agrawal A, Agrawal R, Singh R, Agrawal R, Agrawal S
Indian J Dent Res 2014 Mar-Apr;25(2):243-7. doi: 10.4103/0970-9290.135935. PMID: 24992861
Lu J, Vaidya N, Meng H, Dai Q, Romine LE, Jones MC, Pretorius DH
J Ultrasound Med 2014 Jan;33(1):167-76. doi: 10.7863/ultra.33.1.167. PMID: 24371113

Therapy

Shi Y, Zhang B, Kong F, Li X
Medicine (Baltimore) 2018 Jul;97(29):e11471. doi: 10.1097/MD.0000000000011471. PMID: 30024522Free PMC Article

Prognosis

Yu J, Liao PJ, Xu W, Jones JR, Everman DB, Flanagan-Steet H, Keller TH, Virshup DM
J Cell Sci 2021 Dec 15;134(24) Epub 2021 Dec 20 doi: 10.1242/jcs.259383. PMID: 34817055
Gao P, Fu S, Liu Y, Zi X
J Cancer Res Ther 2018;14(4):833-837. doi: 10.4103/0973-1482.188294. PMID: 29970661
Yang X, Lin X, Zhu Y, Luo J, Lin G
Mol Med Rep 2018 Jun;17(6):7553-7558. Epub 2018 Mar 29 doi: 10.3892/mmr.2018.8838. PMID: 29620206Free PMC Article
Kataoka K, Matsushima T, Ito Y, Sato T, Yokoyama S, Asahara H
J Bone Miner Metab 2018 Jan;36(1):64-72. Epub 2017 Mar 21 doi: 10.1007/s00774-017-0820-0. PMID: 28324176Free PMC Article
Villanueva C, Jacobson-Dickman E, Xu C, Manouvrier S, Dwyer AA, Sykiotis GP, Beenken A, Liu Y, Tommiska J, Hu Y, Tiosano D, Gerard M, Leger J, Drouin-Garraud V, Lefebvre H, Polak M, Carel JC, Phan-Hug F, Hauschild M, Plummer L, Rey JP, Raivio T, Bouloux P, Sidis Y, Mohammadi M, de Roux N, Pitteloud N
Genet Med 2015 Aug;17(8):651-9. Epub 2014 Nov 13 doi: 10.1038/gim.2014.166. PMID: 25394172Free PMC Article

Clinical prediction guides

Yu J, Liao PJ, Xu W, Jones JR, Everman DB, Flanagan-Steet H, Keller TH, Virshup DM
J Cell Sci 2021 Dec 15;134(24) Epub 2021 Dec 20 doi: 10.1242/jcs.259383. PMID: 34817055
Gao P, Fu S, Liu Y, Zi X
J Cancer Res Ther 2018;14(4):833-837. doi: 10.4103/0973-1482.188294. PMID: 29970661
Yang X, Lin X, Zhu Y, Luo J, Lin G
Mol Med Rep 2018 Jun;17(6):7553-7558. Epub 2018 Mar 29 doi: 10.3892/mmr.2018.8838. PMID: 29620206Free PMC Article
Kataoka K, Matsushima T, Ito Y, Sato T, Yokoyama S, Asahara H
J Bone Miner Metab 2018 Jan;36(1):64-72. Epub 2017 Mar 21 doi: 10.1007/s00774-017-0820-0. PMID: 28324176Free PMC Article
Villanueva C, Jacobson-Dickman E, Xu C, Manouvrier S, Dwyer AA, Sykiotis GP, Beenken A, Liu Y, Tommiska J, Hu Y, Tiosano D, Gerard M, Leger J, Drouin-Garraud V, Lefebvre H, Polak M, Carel JC, Phan-Hug F, Hauschild M, Plummer L, Rey JP, Raivio T, Bouloux P, Sidis Y, Mohammadi M, de Roux N, Pitteloud N
Genet Med 2015 Aug;17(8):651-9. Epub 2014 Nov 13 doi: 10.1038/gim.2014.166. PMID: 25394172Free PMC Article

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