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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
Hermida A, Jedraszak G, Kubala M, Mathiron A, Berna P, Bennis Y, Hermida JS
Gene 2021 Apr 20;777:145465. Epub 2021 Jan 29 doi: 10.1016/j.gene.2021.145465. PMID: 33524520
Hwang JH, Kim HW, Lee DH, Chung JH, Park H
J Hand Surg Eur Vol 2015 Oct;40(8):855-61. Epub 2015 Mar 31 doi: 10.1177/1753193415580066. PMID: 25827142
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
Abraham E, Waxman B, Shirali S, Durkin M
J Pediatr Orthop 1999 May-Jun;19(3):404-10. PMID: 10344329

Diagnosis

Timothy KW, Bauer R, Larkin KA, Walsh EP, Abrams DJ, Gonzalez Corcia C, Valsamakis A, Pitt GS, Dick IE, Golden A
Orphanet J Rare Dis 2024 Nov 23;19(1):433. doi: 10.1186/s13023-024-03445-x. PMID: 39580446Free PMC Article
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
Shu J, Li Y, Ju R, Yan GX
J Cardiovasc Electrophysiol 2014 Aug;25(8):910-912. Epub 2014 May 16 doi: 10.1111/jce.12427. PMID: 24724570
Singh SK, Chaturvedi R, Pal SK, Singh KK, Sinha SK, Singh SK, Agrawal JK
J Assoc Physicians India 1999 Aug;47(8):842-3. PMID: 10778643
Solomon LM, Cohen MM Jr, Pruzansky S
Birth Defects Orig Artic Ser 1971 Jun;7(8):193-5. PMID: 4281326

Therapy

Chen X, Birey F, Li MY, Revah O, Levy R, Thete MV, Reis N, Kaganovsky K, Onesto M, Sakai N, Hudacova Z, Hao J, Meng X, Nishino S, Huguenard J, Pașca SP
Nature 2024 Apr;628(8009):818-825. Epub 2024 Apr 24 doi: 10.1038/s41586-024-07310-6. PMID: 38658687Free PMC Article
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

Prognosis

Czerninski R, Mordekovich N, Basile J
J Oral Pathol Med 2022 Sep;51(8):747-754. Epub 2022 Aug 23 doi: 10.1111/jop.13343. PMID: 36053963Free 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
Hermida A, Jedraszak G, Kubala M, Mathiron A, Berna P, Bennis Y, Hermida JS
Gene 2021 Apr 20;777:145465. Epub 2021 Jan 29 doi: 10.1016/j.gene.2021.145465. PMID: 33524520
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
Gershon ES, Grennan K, Busnello J, Badner JA, Ovsiew F, Memon S, Alliey-Rodriguez N, Cooper J, Romanos B, Liu C
Mol Psychiatry 2014 Aug;19(8):890-4. Epub 2013 Aug 27 doi: 10.1038/mp.2013.107. PMID: 23979604Free PMC Article

Clinical prediction guides

Scacchi S, Pavarino LF, Mazzanti A, Trancuccio A, Priori SG, Colli Franzone P
PLoS One 2024;19(7):e0305248. Epub 2024 Jul 5 doi: 10.1371/journal.pone.0305248. PMID: 38968219Free PMC Article
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
Wang B, Xu B, Cheng Z, Zhou X, Wang J, Yang G, Cheng L, Yang J, Ma X
Clin Chim Acta 2012 Jul 11;413(13-14):1049-52. Epub 2012 Feb 22 doi: 10.1016/j.cca.2012.02.015. PMID: 22374128
Sarfarazi M, Akarsu AN, Sayli BS
Hum Mol Genet 1995 Aug;4(8):1453-8. doi: 10.1093/hmg/4.8.1453. PMID: 7581388
Solomon LM, Cohen MM Jr, Pruzansky S
Birth Defects Orig Artic Ser 1971 Jun;7(8):193-5. PMID: 4281326

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