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Syndactyly type 4(SDTY4)

MedGen UID:
350013
Concept ID:
C1861355
Disease or Syndrome
Synonyms: HAAS TYPE SYNDACTYLY; Polysyndactyly type Haas; Syndactyly, type IV
SNOMED CT: Syndactyly type 4 (719158007); Haas type syndactyly (719158007)
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.
 
Gene (location): LMBR1 (7q36.3)
 
Monarch Initiative: MONDO:0008515
OMIM®: 186200
Orphanet: ORPHA93405

Definition

Syndactyly type IV (SDTY4) is characterized by complete syndactylism of all the fingers accompanied by polydactyly and cup-shaped hands due to flexion of the fingers (summary by Sato et al., 2007). [from OMIM]

Clinical features

From HPO
Polydactyly
MedGen UID:
57774
Concept ID:
C0152427
Congenital Abnormality
A congenital anomaly characterized by the presence of supernumerary fingers or toes.
Postaxial polydactyly
MedGen UID:
67394
Concept ID:
C0220697
Congenital Abnormality
Polydactyly refers to the occurrence of supernumerary digits and is the most frequent of congenital hand and foot deformities. Based on the location of the extra digits, polydactyly can be classified into preaxial, involving the thumb or great toe; postaxial, affecting the fifth digit; and central, involving the 3 central digits. Postaxial polydactyly (PAP) is further subclassified into 2 types: in type A, a well-formed extra digit articulates with the fifth or a sixth metacarpal, whereas in type B, a rudimentary, poorly developed extra digit is present (summary by Umm-e-Kalsoom et al., 2012). Genetic Heterogeneity of Postaxial Polydactyly Other forms of postaxial polydactyly type A include PAPA2 (602085) on chromosome 13q21; PAPA3 (607324) on chromosome 19p13; PAPA4 (608562) on chromosome 7q22; PAPA5 (263450) on chromosome 13q13; PAPA6 (615226), caused by mutation in the ZNF141 gene (194648) on chromosome 4p16; PAPA7 (617642), caused by mutation in the IQCE gene (617631) on chromosome 7p22; PAPA8 (618123), caused by mutation in the GLI1 gene (165220) on chromosome 12q13; PAPA9 (618219), caused by mutation in the CIBAR1 gene (617273) on chromosome 8q22; and PAPA10 (618498), caused by mutation in the KIAA0825 gene (617266) on chromosome 5q15.
Triphalangeal thumb
MedGen UID:
66029
Concept ID:
C0241397
Congenital Abnormality
A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb.
Supernumerary metacarpal bones
MedGen UID:
639615
Concept ID:
C0545617
Congenital Abnormality
The presence of more than the normal number of metacarpal bones.
1-5 finger complete cutaneous syndactyly
MedGen UID:
350015
Concept ID:
C1861357
Finding
6 metacarpals
MedGen UID:
348337
Concept ID:
C1861360
Finding
1-5 finger cutaneous syndactyly
MedGen UID:
869302
Concept ID:
C4023728
Congenital Abnormality
A soft tissue continuity in the anteroposterior axis between the thumb to the little finger that extends distally to at least the level of the proximal interphalangeal joints (complete syndactyly of all fingers of the hand).
2-3 toe syndactyly
MedGen UID:
1645640
Concept ID:
C4551570
Congenital Abnormality
Syndactyly with fusion of toes two and three.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSyndactyly type 4
Follow this link to review classifications for Syndactyly type 4 in Orphanet.

Professional guidelines

PubMed

Wei X, Huang G, Gui B, Xie B, Chen S, Fan X, Chen Y
Mol Genet Genomic Med 2022 Apr;10(4):e1901. Epub 2022 Mar 2 doi: 10.1002/mgg3.1901. PMID: 35235708Free PMC Article
Lam AS, Liu CC, Deutsch GH, Rivera J, Perkins JA, Holmes G, Jabs EW, Cunningham ML, Dahl JP
Laryngoscope 2021 Apr;131(4):E1349-E1356. Epub 2020 Sep 4 doi: 10.1002/lary.29060. PMID: 32886384Free PMC Article
Biamino E, Canale A, Lacilla M, Marinosci A, Dagna F, Genitori L, Peretta P, Silengo M, Albera R, Ferrero GB
Int J Pediatr Otorhinolaryngol 2016 Jun;85:95-8. Epub 2016 Apr 11 doi: 10.1016/j.ijporl.2016.03.038. PMID: 27240504

Recent clinical studies

Etiology

Faitatzidou D, Dipla K, Theodorakopoulou MP, Koutlas A, Tsitouridis A, Dimitriadis C, Pateinakis P, Zafeiridis A, Papagianni A, Jadoul M, Sarafidis P
Exp Biol Med (Maywood) 2023 Oct;248(20):1745-1753. Epub 2023 Nov 2 doi: 10.1177/15353702231198081. PMID: 37916412Free PMC Article
Raposo-Amaral CE, Medeiros LL, Raposo-Amaral CA
J Craniofac Surg 2023 Jun 1;34(4):1170-1173. Epub 2022 Nov 1 doi: 10.1097/SCS.0000000000009107. PMID: 36730868
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
Biesecker LG
Orphanet J Rare Dis 2008 Apr 24;3:10. doi: 10.1186/1750-1172-3-10. PMID: 18435847Free PMC Article

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
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
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
Horlenko O, Lenchenko A, Kossey G, Tomey A, Debretseni O
Georgian Med News 2018 Dec;(285):47-51. PMID: 30702069
Biesecker LG
Orphanet J Rare Dis 2008 Apr 24;3:10. doi: 10.1186/1750-1172-3-10. PMID: 18435847Free PMC Article

Therapy

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
Horlenko O, Lenchenko A, Kossey G, Tomey A, Debretseni O
Georgian Med News 2018 Dec;(285):47-51. PMID: 30702069
Mircevsk V, Zogovska E, Chaparoski A, Micunovic M, Filipce V, Mirchevski MM, Kostov M, Мicunovic L
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2017 Mar 1;38(1):35-40. doi: 10.1515/prilozi-2017-0004. PMID: 28593893
Fivenson DP, Scherschun L, Choucair M, Kukuruga D, Young J, Shwayder T
J Am Acad Dermatol 2003 Jun;48(6):886-92. doi: 10.1067/mjd.2003.502. PMID: 12789180
Anderson PJ, Hall CM, Evans RD, Hayward RD, Jones BM
J Pediatr Orthop 1999 Jul-Aug;19(4):504-7. doi: 10.1097/00004694-199907000-00015. PMID: 10413001

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
Yoon AP, Jones NF
J Hand Surg Am 2019 Apr;44(4):288-295. doi: 10.1016/j.jhsa.2019.01.017. PMID: 30947823
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
Biesecker LG
Orphanet J Rare Dis 2008 Apr 24;3:10. doi: 10.1186/1750-1172-3-10. PMID: 18435847Free PMC Article
Rider MA, Grindel SI, Tonkin MA, Wood VE
J Hand Surg Br 2000 Aug;25(4):376-81. doi: 10.1054/jhsb.2000.0447. PMID: 11058008

Clinical prediction guides

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
Faitatzidou D, Dipla K, Theodorakopoulou MP, Koutlas A, Tsitouridis A, Dimitriadis C, Pateinakis P, Zafeiridis A, Papagianni A, Jadoul M, Sarafidis P
Exp Biol Med (Maywood) 2023 Oct;248(20):1745-1753. Epub 2023 Nov 2 doi: 10.1177/15353702231198081. PMID: 37916412Free 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
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
Bukowska-Olech E, Sowińska-Seidler A, Szczałuba K, Jamsheer A
Birth Defects Res 2020 May 15;112(9):652-659. Epub 2020 Apr 14 doi: 10.1002/bdr2.1676. PMID: 32286743

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