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3-5 toe syndactyly

MedGen UID:
869297
•Concept ID:
C4023723
•
Anatomical Abnormality
Synonym: Webbed 3rd-5th toes
 
HPO: HP:0010716

Definition

Syndactyly with fusion of toes three to five. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV3-5 toe syndactyly

Conditions with this feature

Syndactyly-telecanthus-anogenital and renal malformations syndrome
MedGen UID:
394424
•Concept ID:
C2678045
•
Disease or Syndrome
Syndrome with the association of toe syndactyly, facial dysmorphism including telecanthus and a broad nasal tip, urogenital malformations and anal atresia. Around ten cases have been reported so far. The syndrome is caused by mutations in the FAM58A gene (located on the X chromosome) encoding a protein of unknown function.
See: Condition Record
Syndactyly-telecanthus-anogenital and renal malformations syndrome

Recent clinical studies

Etiology

Reconstruction of a Distal Foot Skin Defect Using an Intermediate Dorsal Neurocutaneous Flap.
Liu S, Tan J, Tao S, Duan Y, Hu X, Li Z
Orthop Surg 2020 Apr;12(2):442-449. Epub 2020 Feb 11 doi: 10.1111/os.12623. PMID: 32048450Free PMC Article
Congenital hypoplastic anemia in six patients: unusual association of short proximal phalanges with mild anemia.
Cetin M, Kara A, Gürgey A, Gümrük F, Irken G, Yetgin S, Altay C
Pediatr Hematol Oncol 1995 Mar-Apr;12(2):153-8. doi: 10.3109/08880019509029548. PMID: 7626383

Diagnosis

ERI1: A case report of an autosomal recessive syndrome associated with developmental delay and distal limb abnormalities.
Hoxha V, Aliu E
Am J Med Genet A 2023 Jan;191(1):64-69. Epub 2022 Oct 8 doi: 10.1002/ajmg.a.62987. PMID: 36208065
Small reciprocal insertion detected by spectral karyotyping (SKY) and delimited by array-CGH analysis.
Matthaei A, Werner W, Gerlach EM, Koerner U, Tinschert S, Nitz I, Herr A, Rump A, Bartsch O, Hinkel KG, Schrock E, Oexle K
Eur J Med Genet 2005 Jul-Sep;48(3):328-38. doi: 10.1016/j.ejmg.2005.04.024. PMID: 16179228

Therapy

Congenital hypoplastic anemia in six patients: unusual association of short proximal phalanges with mild anemia.
Cetin M, Kara A, Gürgey A, Gümrük F, Irken G, Yetgin S, Altay C
Pediatr Hematol Oncol 1995 Mar-Apr;12(2):153-8. doi: 10.3109/08880019509029548. PMID: 7626383

Prognosis

Congenital hypoplastic anemia in six patients: unusual association of short proximal phalanges with mild anemia.
Cetin M, Kara A, Gürgey A, Gümrük F, Irken G, Yetgin S, Altay C
Pediatr Hematol Oncol 1995 Mar-Apr;12(2):153-8. doi: 10.3109/08880019509029548. PMID: 7626383

Clinical prediction guides

Reconstruction of a Distal Foot Skin Defect Using an Intermediate Dorsal Neurocutaneous Flap.
Liu S, Tan J, Tao S, Duan Y, Hu X, Li Z
Orthop Surg 2020 Apr;12(2):442-449. Epub 2020 Feb 11 doi: 10.1111/os.12623. PMID: 32048450Free PMC Article

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