U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Syndactyly type 8(MF4)

MedGen UID:
333392
Concept ID:
C1839728
Disease or Syndrome
Synonyms: Metacarpal 4-5 fusion; Metacarpals 4 and 5 fusion
SNOMED CT: Syndactyly type 8 (715442006); Fusion of metacarpal 4 and 5 (715442006); Syndactyly of fingers type 8 (715442006)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Gene (location): FGF16 (Xq21.1)
 
Monarch Initiative: MONDO:0010669
OMIM®: 309630
Orphanet: ORPHA2498

Definition

A rare non-syndromic syndactyly characterized by unilateral or bilateral fusion of the 4th and 5th metacarpals with no other associated abnormalities. Patients present shortened 4th and 5th metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the 5th finger in parallel with the other fingers. [from ORDO]

Clinical features

From HPO
2-3 toe cutaneous syndactyly
MedGen UID:
98470
Concept ID:
C0432040
Congenital Abnormality
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
4-5 metacarpal synostosis
MedGen UID:
395341
Concept ID:
C1859768
Anatomical Abnormality
Short 5th metacarpal
MedGen UID:
348858
Concept ID:
C1861388
Finding
Short fifth metacarpal bone.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSyndactyly type 8
Follow this link to review classifications for Syndactyly type 8 in Orphanet.

Professional guidelines

PubMed

Theman TA, Upton J, Taghinia AH, Firriolo JM, Nuzzi LC, Labow BI
J Hand Surg Am 2018 Nov;43(11):1042.e1-1042.e8. Epub 2018 Jun 8 doi: 10.1016/j.jhsa.2018.03.050. PMID: 29891270
Roscioli T, Elakis G, Cox TC, Moon DJ, Venselaar H, Turner AM, Le T, Hackett E, Haan E, Colley A, Mowat D, Worgan L, Kirk EP, Sachdev R, Thompson E, Gabbett M, McGaughran J, Gibson K, Gattas M, Freckmann ML, Dixon J, Hoefsloot L, Field M, Hackett A, Kamien B, Edwards M, Adès LC, Collins FA, Wilson MJ, Savarirayan R, Tan TY, Amor DJ, McGillivray G, White SM, Glass IA, David DJ, Anderson PJ, Gianoutsos M, Buckley MF
Am J Med Genet C Semin Med Genet 2013 Nov;163C(4):259-70. Epub 2013 Oct 11 doi: 10.1002/ajmg.c.31378. PMID: 24127277
Lumenta DB, Kitzinger HB, Beck H, Frey M
J Hand Surg Am 2010 Aug;35(8):1323-9. Epub 2010 Jul 16 doi: 10.1016/j.jhsa.2010.04.033. PMID: 20638200

Recent clinical studies

Etiology

Schierz IAM, Piro E, Giuffrè M, Pinello G, Angelini A, Antona V, Cimador M, Corsello G
J Matern Fetal Neonatal Med 2022 Dec;35(23):4513-4520. Epub 2020 Dec 1 doi: 10.1080/14767058.2020.1854213. PMID: 36062518
Telich-Tarriba JE, Navarro-Barquin DF, Verdezoto-Gaibor K, Cardenas-Mejia A
Hand (N Y) 2022 Nov;17(6):1292-1296. Epub 2021 Mar 1 doi: 10.1177/1558944721994265. PMID: 33641474Free PMC Article
Shin YH, Baek GH, Kim YJ, Kim MJ, Kim JK
PLoS One 2021;16(3):e0248105. Epub 2021 Mar 9 doi: 10.1371/journal.pone.0248105. PMID: 33690710Free PMC Article
Kilcoyne S, Potter KR, Gordon Z, Overton S, Brockbank S, Jayamohan J, Magdum S, Smith M, Johnson D, Wall S, Wilkie AOM
J Craniofac Surg 2021 Jan-Feb 01;32(1):134-140. doi: 10.1097/SCS.0000000000007153. PMID: 33074973
Nur BG, Pehlivanoğlu S, Mıhçı E, Calışkan M, Demir D, Alper OM, Kayserili H, Lüleci G
Pediatr Neurol 2014 May;50(5):482-90. Epub 2014 Jan 11 doi: 10.1016/j.pediatrneurol.2014.01.023. PMID: 24656465

Diagnosis

Schierz IAM, Piro E, Giuffrè M, Pinello G, Angelini A, Antona V, Cimador M, Corsello G
J Matern Fetal Neonatal Med 2022 Dec;35(23):4513-4520. Epub 2020 Dec 1 doi: 10.1080/14767058.2020.1854213. PMID: 36062518
Shin YH, Baek GH, Kim YJ, Kim MJ, Kim JK
PLoS One 2021;16(3):e0248105. Epub 2021 Mar 9 doi: 10.1371/journal.pone.0248105. PMID: 33690710Free PMC Article
Kilcoyne S, Potter KR, Gordon Z, Overton S, Brockbank S, Jayamohan J, Magdum S, Smith M, Johnson D, Wall S, Wilkie AOM
J Craniofac Surg 2021 Jan-Feb 01;32(1):134-140. doi: 10.1097/SCS.0000000000007153. PMID: 33074973
Wall LB, Velicki K, Roberts S, Goldfarb CA
J Hand Surg Am 2020 Aug;45(8):773.e1-773.e6. Epub 2020 Feb 13 doi: 10.1016/j.jhsa.2019.12.005. PMID: 32061463
Nur BG, Pehlivanoğlu S, Mıhçı E, Calışkan M, Demir D, Alper OM, Kayserili H, Lüleci G
Pediatr Neurol 2014 May;50(5):482-90. Epub 2014 Jan 11 doi: 10.1016/j.pediatrneurol.2014.01.023. PMID: 24656465

Therapy

Nor AM, Jagdeesh K, Mohd FAS, Kamraul AK, Yusmadi A, Noraslawati R, Malina O, Roziana R
Med J Malaysia 2023 Nov;78(6):756-762. PMID: 38031217
Malta ES, Lopes VHF, Esco MR, Zagatto AM
Eur J Appl Physiol 2023 Sep;123(9):1939-1948. Epub 2023 Apr 27 doi: 10.1007/s00421-023-05205-4. PMID: 37103570
Nopparat J, Khuituan P, Peerakietkhajorn S, Teanpaisan R
PLoS One 2023;18(4):e0284303. Epub 2023 Apr 11 doi: 10.1371/journal.pone.0284303. PMID: 37040355Free PMC Article
Thananimit S, Pahumunto N, Teanpaisan R
Biomolecules 2022 Dec 7;12(12) doi: 10.3390/biom12121829. PMID: 36551257Free PMC Article
Goldstein JA, Paliga JT, Taylor JA, Bartlett SP
J Craniofac Surg 2015 Jan;26(1):124-8. doi: 10.1097/SCS.0000000000001320. PMID: 25569391

Prognosis

Shin YH, Baek GH, Kim YJ, Kim MJ, Kim JK
PLoS One 2021;16(3):e0248105. Epub 2021 Mar 9 doi: 10.1371/journal.pone.0248105. PMID: 33690710Free PMC Article
Baas M, Burger EB, van den Ouweland AM, Hovius SE, de Klein A, van Nieuwenhoven CA, Galjaard RJH
J Med Genet 2021 Jun;58(6):362-368. Epub 2020 Jun 26 doi: 10.1136/jmedgenet-2020-106948. PMID: 32591344Free PMC Article
Fukuyama M, Ohno S, Ozawa J, Kato K, Makiyama T, Nakagawa Y, Horie M
Circ J 2020 Mar 25;84(4):559-568. Epub 2020 Mar 12 doi: 10.1253/circj.CJ-19-1101. PMID: 32161207
Kawabata H, Tamura D
J Hand Surg Am 2018 May;43(5):485.e1-485.e5. Epub 2017 Dec 6 doi: 10.1016/j.jhsa.2017.10.034. PMID: 29223628
Nur BG, Pehlivanoğlu S, Mıhçı E, Calışkan M, Demir D, Alper OM, Kayserili H, Lüleci G
Pediatr Neurol 2014 May;50(5):482-90. Epub 2014 Jan 11 doi: 10.1016/j.pediatrneurol.2014.01.023. PMID: 24656465

Clinical prediction guides

Schierz IAM, Piro E, Giuffrè M, Pinello G, Angelini A, Antona V, Cimador M, Corsello G
J Matern Fetal Neonatal Med 2022 Dec;35(23):4513-4520. Epub 2020 Dec 1 doi: 10.1080/14767058.2020.1854213. PMID: 36062518
Al-Yaarubi S, Al-Abri AS, Al-Kindi H, Al-Abri M, Naz T, Khater D
Sleep Breath 2022 Jun;26(2):815-821. Epub 2021 Aug 9 doi: 10.1007/s11325-021-02463-4. PMID: 34368942
Wall LB, Velicki K, Roberts S, Goldfarb CA
J Hand Surg Am 2020 Aug;45(8):773.e1-773.e6. Epub 2020 Feb 13 doi: 10.1016/j.jhsa.2019.12.005. PMID: 32061463
Ficara A, Syngelaki A, Hammami A, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2020 Jan;55(1):75-80. Epub 2019 Oct 8 doi: 10.1002/uog.20857. PMID: 31595569
Ishigaki T, Akita S, Suzuki H, Udagawa A, Mitsukawa N
J Plast Reconstr Aesthet Surg 2019 Jul;72(7):1170-1177. Epub 2019 Mar 2 doi: 10.1016/j.bjps.2019.02.030. PMID: 30898504

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...