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Syndactyly type 1(SDTY1)

MedGen UID:
348343
Concept ID:
C1861380
Disease or Syndrome
Synonyms: CHROMOSOME 2q35 DUPLICATION SYNDROME; SYNDACTYLY, TYPE I; Zygodactyly; ZYGODACTYLY 2
SNOMED CT: Syndactyly type 1 (715723008)
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.
 
Monarch Initiative: MONDO:0008512
OMIM®: 185900
Orphanet: ORPHA93402

Definition

A distal limb malformation with manifestation of complete or partial webbing between the third and fourth fingers and/or the second and third toes. Other digits may be involved occasionally. The phenotype varies widely within and between families, sometimes only the hands are affected and sometimes only the feet. Webbing between fingers may be associated with bony fusion of the distal phalanges. Inherited as an autosomal dominant trait. [from SNOMEDCT_US]

Clinical features

From HPO
3-4 finger cutaneous syndactyly
MedGen UID:
868712
Concept ID:
C4023115
Congenital Abnormality
A soft tissue continuity in the A/P axis between fingers 3 and 4.
2-3 toe syndactyly
MedGen UID:
1645640
Concept ID:
C4551570
Congenital Abnormality
Syndactyly with fusion of toes two and three.
Sagittal craniosynostosis
MedGen UID:
140921
Concept ID:
C0432123
Congenital Abnormality
A kind of craniosynostosis affecting the sagittal suture.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSyndactyly type 1
Follow this link to review classifications for Syndactyly type 1 in Orphanet.

Professional guidelines

PubMed

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
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
Fearon JA, Rhodes J
Plast Reconstr Surg 2009 May;123(5):1560-1569. doi: 10.1097/PRS.0b013e3181a2057e. PMID: 19407629

Recent clinical studies

Clinical prediction guides

Ghadami M, Majidzadeh-A K, Haerian BS, Damavandi E, Yamada K, Pasallar P, Najafi MT, Nishimura G, Tomita HA, Yoshiura KI, Niikawa N
Am J Med Genet 2001 Nov 22;104(2):147-51. doi: 10.1002/ajmg.10061. PMID: 11746046
Bosse K, Betz RC, Lee YA, Wienker TF, Reis A, Kleen H, Propping P, Cichon S, Nöthen MM
Am J Hum Genet 2000 Aug;67(2):492-7. Epub 2000 Jun 30 doi: 10.1086/303028. PMID: 10877983Free PMC Article

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