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Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome

MedGen UID:: 767525
•Concept ID:: C3554611
•: Disease or Syndrome

Synonyms:	CAMPTODACTYLY, CLINODACTYLY, SYNDACTYLY, AND BIFID TOE SYNDROME; Wahab syndrome
SNOMED CT:	Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome (783553008); Wahab syndrome (783553008); Synactyly, camptodactyly and clinodactyly of fifth fingers, bifid halluces syndrome (783553008)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0014069
OMIM®:	615170
Orphanet:	ORPHA357332

Definition

A rare genetic congenital limb malformation syndrome with characteristics of a unique combination of bilateral, symmetrical camptodactyly and clinodactyly of fifth fingers, mesoaxial camptodactyly of toes and ulnar deviation of third fingers. Additional variable manifestations include bifid toes and severe syndactyly or synpolydactyly involving all digits of hands and feet. [from SNOMEDCT_US]

Clinical features

From HPO

Syndactyly

MedGen UID:: 52619
•Concept ID:: C0039075
•: Congenital Abnormality

Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism".

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Thumbs, congenital Clasped

MedGen UID:: 98140
•Concept ID:: C0431886
•: Congenital Abnormality

In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.

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Short thumb

MedGen UID:: 98469
•Concept ID:: C0431890
•: Congenital Abnormality

Hypoplasia (congenital reduction in size) of the thumb.

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Short metacarpal

MedGen UID:: 323064
•Concept ID:: C1837084
•: Anatomical Abnormality

Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.

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Short palm

MedGen UID:: 334684
•Concept ID:: C1843108
•: Finding

Short palm.

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Short foot

MedGen UID:: 376415
•Concept ID:: C1848673
•: Finding

A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).

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Clinodactyly

MedGen UID:: 1644094
•Concept ID:: C4551485
•: Congenital Abnormality

An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).

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Ankylosis

MedGen UID:: 8101
•Concept ID:: C0003090
•: Pathologic Function

A reduction of joint mobility resulting from changes involving the articular surfaces.

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Camptodactyly

MedGen UID:: 195780
•Concept ID:: C0685409
•: Congenital Abnormality

The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.

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Abnormality of limbs
Abnormality of the musculoskeletal system
- Ankylosis
- Camptodactyly

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVSyndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome

Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
- Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome

Follow this link to review classifications for Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome in Orphanet.

Recent clinical studies

Etiology

Pierre Robin anomaly with an accessory metacarpal of the index fingers. The Catel-Manzke syndrome.

Dignan PS, Martin LW, Zenni EJ Jr
Clin Genet 1986 Feb;29(2):168-73. doi: 10.1111/j.1399-0004.1986.tb01244.x. PMID: 3955870

See all (1)

Diagnosis

Tricorhinophalangeal Syndrome type 1: a novel variant and Perthes-like hip changes as first manifestation.

Cardoso I, Rodrigues M, Grangeia A, Melão L, Aguiar F, Costa G, Brito I
Acta Reumatol Port 2021 Apr-Jun;46(2):186-188. PMID: 34285179

Distinct phenotype of PHF6 deletions in females.

Di Donato N, Isidor B, Lopez Cazaux S, Le Caignec C, Klink B, Kraus C, Schrock E, Hackmann K
Eur J Med Genet 2014 Feb;57(2-3):85-9. Epub 2013 Dec 28 doi: 10.1016/j.ejmg.2013.12.003. PMID: 24380767

Aarskog syndrome: report of a family with review and discussion of nosology.

Teebi AS, Rucquoi JK, Meyn MS
Am J Med Genet 1993 Jun 15;46(5):501-9. doi: 10.1002/ajmg.1320460508. PMID: 8322809

The orthopedic aspects of the fetal alcohol syndrome.

Spiegel PG, Pekman WM, Rich BH, Versteeg CN, Nelson V, Dudnikov M
Clin Orthop Relat Res 1979 Mar-Apr;(139):58-63. PMID: 455851

4q- syndrome.

Townes PL, White M, Di Marzo SV
Am J Dis Child 1979 Apr;133(4):383-5. doi: 10.1001/archpedi.1979.02130040037008. PMID: 433854

See all (9)

Prognosis

A Nonsense Mutation in HOXD13 Gene from A Chinese Family with Non-Syndromic Synpolydactyly.

Guo X, Shi T, Lin M, Zhang Y
Tohoku J Exp Med 2019 Oct;249(2):93-100. doi: 10.1620/tjem.249.93. PMID: 31611522

Penta X syndrome: a case report with review of the literature.

Kassai R, Hamada I, Furuta H, Cho K, Abe K, Deng HX, Niikawa N
Am J Med Genet 1991 Jul 1;40(1):51-6. doi: 10.1002/ajmg.1320400110. PMID: 1887850

See all (2)

Clinical prediction guides

A Nonsense Mutation in HOXD13 Gene from A Chinese Family with Non-Syndromic Synpolydactyly.

Guo X, Shi T, Lin M, Zhang Y
Tohoku J Exp Med 2019 Oct;249(2):93-100. doi: 10.1620/tjem.249.93. PMID: 31611522

Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3.

Malik S, Percin FE, Ahmad W, Percin S, Akarsu NA, Koch MC, Grzeschik KH
Am J Med Genet A 2005 May 1;134(4):404-8. doi: 10.1002/ajmg.a.30656. PMID: 15779011

Leiomyoma of uterus in a patient with ring chromosome 12: case presentation and literature review.

Hajianpour MJ, Hajianpour AK, Habibian R, Wohlmuth C
Am J Med Genet 1996 May 17;63(2):335-9. doi: 10.1002/(SICI)1096-8628(19960517)63:2<335::AID-AJMG2>3.0.CO;2-S. PMID: 8725781

The orthopedic aspects of the fetal alcohol syndrome.

Spiegel PG, Pekman WM, Rich BH, Versteeg CN, Nelson V, Dudnikov M
Clin Orthop Relat Res 1979 Mar-Apr;(139):58-63. PMID: 455851

See all (4)

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Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Molecular resources

Consumer resources

Reviews

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