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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.
See: This record
Autosomal dominant inheritance (Orphanet)
X-linked recessive inheritance (Orphanet)
 
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
See: Feature record | Search on this feature
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).
See: Feature record | Search on this feature
4-5 metacarpal synostosis
MedGen UID:
395341
•Concept ID:
C1859768
•
Anatomical Abnormality
See: Feature record | Search on this feature
Short 5th metacarpal
MedGen UID:
348858
•Concept ID:
C1861388
•
Finding
Short fifth metacarpal bone.
See: Feature record | Search on this feature

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

Central Coalition Osteotomy of Phalangeal Synostoses in the Management of the Type III Apert Hand.
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
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
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
Long-term outcomes of web creep, scar quality, and function after simple syndactyly surgical treatment.
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

Repeated cold-water immersion improves autonomic cardiac modulation following five sessions of high-intensity interval exercise.
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
Clinical and genetic approach in the characterization of newborns with anorectal malformation.
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
Prevalence of Hand Malformations in Patients With Moebius Syndrome and Their Management.
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
Epidemiology of congenital upper limb anomalies in Korea: A nationwide population-based study.
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
Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.
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

Peripartum hysterectomy clinical characteristics and outcomes- a hospital based retrospective audit study.
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
Sanjad Sakati syndrome and sleep-disordered breathing: an undisclosed association.
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
Epidemiology of congenital upper limb anomalies in Korea: A nationwide population-based study.
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
Feeding, Communication, Hydrocephalus, and Intracranial Hypertension in Patients With Severe FGFR2-Associated Pfeiffer Syndrome.
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
Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.
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

Antisense oligonucleotide therapeutic approach for Timothy syndrome.
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
Peripartum hysterectomy clinical characteristics and outcomes- a hospital based retrospective audit study.
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
Repeated cold-water immersion improves autonomic cardiac modulation following five sessions of high-intensity interval exercise.
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
Probiotics of Lacticaseibacillus paracasei SD1 and Lacticaseibacillus rhamnosus SD11 attenuate inflammation and β-cell death in streptozotocin-induced type 1 diabetic mice.
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
Characterization of Short Chain Fatty Acids Produced by Selected Potential Probiotic Lactobacillus Strains.
Thananimit S, Pahumunto N, Teanpaisan R
Biomolecules 2022 Dec 7;12(12) doi: 10.3390/biom12121829. PMID: 36551257Free PMC Article

Prognosis

Factors important in the correct evaluation of oral high-risk lesions during the telehealth era.
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
Epidemiology of congenital upper limb anomalies in Korea: A nationwide population-based study.
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
Five- and 10-Year Follow-Up of Nonvascularized Toe Phalanx Transfers.
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
Preoperative electrocardiograms for nonsyndromic children with hand syndactyly.
Nuzzi LC, Pike CM, Lewine EB, Cerrato FE, Alexander ME, Ferrari LR, Bae DS, Taghinia A, Waters PM, Labow BI
J Hand Surg Am 2015 Mar;40(3):452-5. Epub 2014 Dec 24 doi: 10.1016/j.jhsa.2014.10.053. PMID: 25542431
Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.
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

Peripartum hysterectomy clinical characteristics and outcomes- a hospital based retrospective audit study.
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
Autonomic and cardiorespiratory responses to the active tilt test in individuals with Parkinson disease: cross-sectional study.
Valente HB, Gervazoni NL, Laurino MJL, Vanzella LM, Stoco-Oliveira MC, Rodrigues MV, André LB, Ribeiro F, Carvalho AC, Vanderlei LCM
Arq Neuropsiquiatr 2022 Jul;80(7):689-698. Epub 2022 Sep 29 doi: 10.1055/s-0042-1755225. PMID: 36254441Free PMC Article
Clinical and genetic approach in the characterization of newborns with anorectal malformation.
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
Sanjad Sakati syndrome and sleep-disordered breathing: an undisclosed association.
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
Complex syndactyly: aesthetic and objective outcomes.
Goldfarb CA, Steffen JA, Stutz CM
J Hand Surg Am 2012 Oct;37(10):2068-73. Epub 2012 Aug 31 doi: 10.1016/j.jhsa.2012.06.033. PMID: 22939825

Supplemental Content

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    • ClinVar
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      Related information in NCBI Gene
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      Clinical tests in GTR
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      Related Medical Subject Headings
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      Related records in OMIM
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