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Syndactyly type 1(SDTY1)

MedGen UID:
Concept ID:
Disease or Syndrome
SNOMED CT: Syndactyly type 1 (715723008)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
Concept ID:
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


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 syndactyly
MedGen UID:
Concept ID:
Syndactyly with fusion of fingers three and four.
Cutaneous syndactyly
MedGen UID:
Concept ID:
Congenital Abnormality
A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits.
2-3 toe syndactyly
MedGen UID:
Concept ID:
Congenital Abnormality
Syndactyly with fusion of toes two and three.
Sagittal craniosynostosis
MedGen UID:
Concept ID:
Congenital Abnormality
A kind of craniosynostosis affecting the sagittal suture.
Distal symphalangism of hands
MedGen UID:
Concept ID:
The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases.

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


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
Cohen MM Jr
Am J Med Genet 1993 Feb 1;45(3):300-7. doi: 10.1002/ajmg.1320450305. PMID: 8434615

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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