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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
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. Autosomal dominant inheritance (Orphanet)

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 syndactyly

MedGen UID:: 346463
•Concept ID:: C1856889
•: Finding

Syndactyly with fusion of fingers three and four.

See: Feature record | Search on this feature

Cutaneous syndactyly

MedGen UID:: 396250
•Concept ID:: C1861921
•: 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.

See: Feature record | Search on this feature

2-3 toe syndactyly

MedGen UID:: 1645640
•Concept ID:: C4551570
•: Congenital Abnormality

Syndactyly with fusion of toes two and three.

See: Feature record | Search on this feature

Sagittal craniosynostosis

MedGen UID:: 140921
•Concept ID:: C0432123
•: Congenital Abnormality

A kind of craniosynostosis affecting the sagittal suture.

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Distal symphalangism of hands

MedGen UID:: 350607
•Concept ID:: C1862158
•: Finding

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.

See: Feature record | Search on this feature

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Abnormality of limbs
Abnormality of the musculoskeletal system
- Distal symphalangism of hands
- Sagittal craniosynostosis

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVSyndactyly type 1

Abnormality of limbs
- Abnormality of limb bone
  - Abnormal limb bone morphology
    - Abnormal digit morphology
      - Syndactyly
        Non-syndromic syndactyly
        Syndactyly type 1
        Zygodactyly type 1
        Zygodactyly type 2
        Zygodactyly type 3
        Zygodactyly type 4

Follow this link to review classifications for Syndactyly type 1 in Orphanet.

Professional guidelines

PubMed

Prevention and management of hearing loss in syndromic craniosynostosis: A case series.

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

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

Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis.

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

See all (10)

Recent clinical studies

Clinical prediction guides

Confirmation of genetic homogeneity of syndactyly type 1 in an Iranian family.

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

Localization of a gene for syndactyly type 1 to chromosome 2q34-q36.

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: 10877983 Free PMC Article

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Syndactyly type 1(SDTY1)

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

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