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Duplication involving bones of the feet

MedGen UID:
870146
•Concept ID:
C4024578
•
Anatomical Abnormality
HPO: HP:0009136

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDuplication involving bones of the feet

Conditions with this feature

Absence deformity of leg-cataract syndrome
MedGen UID:
343374
•Concept ID:
C1855523
•
Disease or Syndrome
A very rare congenital limb malformation syndrome characterized by absence deformity of one leg, progressive scoliosis, short stature, and congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been reported. There have been no further descriptions in the literature since 1968.
See: Condition Record
Absence deformity of leg-cataract syndrome

Recent clinical studies

Etiology

Central polydactyly of the foot: An experience of a treatment of 22 patients.
Ishigaki T, Akita S, Udagawa A, Suzuki H, Mitsukawa N
J Orthop Sci 2023 Mar;28(2):426-431. Epub 2021 Dec 16 doi: 10.1016/j.jos.2021.11.013. PMID: 34922808
Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature.
Paththinige CS, Sirisena ND, Escande F, Manouvrier S, Petit F, Dissanayake VHW
BMC Med Genet 2019 Jun 14;20(1):108. doi: 10.1186/s12881-019-0839-2. PMID: 31200655Free PMC Article
Surgical Reconstruction of Metatarsal Type Preaxial Polydactyly Using an Amalgamating Osteotomy.
Boyle MJ, Hogue GD, Kasser JR
J Pediatr Orthop 2016 Sep;36(6):e66-70. doi: 10.1097/BPO.0000000000000635. PMID: 26296225
A 72-year-old Danish puzzle resolved--comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions.
Kjaer KW, Hansen L, Eiberg H, Utkus A, Skovgaard LT, Leicht P, Opitz JM, Tommerup N
Am J Med Genet A 2005 Nov 1;138(4):328-39. doi: 10.1002/ajmg.a.30971. PMID: 16222680

Diagnosis

Mid-trimester absent nasal bone and transient unilateral hydronephrosis associated with 16p13.3 microduplication.
Sherer DM, Hsieh V, Kheyman M, Field A, Dalloul M
J Clin Ultrasound 2021 Jul;49(6):622-624. Epub 2021 Mar 28 doi: 10.1002/jcu.23007. PMID: 33778969
Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature.
Paththinige CS, Sirisena ND, Escande F, Manouvrier S, Petit F, Dissanayake VHW
BMC Med Genet 2019 Jun 14;20(1):108. doi: 10.1186/s12881-019-0839-2. PMID: 31200655Free PMC Article
Co-occurrence of genomic imbalances on Xp22.1 in the SHOX region and 15q25.2 in a girl with short stature, precocious puberty, urogenital malformations and bone anomalies.
Monzani A, Babu D, Mellone S, Genoni G, Fanelli A, Prodam F, Bellone S, Giordano M
BMC Med Genomics 2019 Jan 9;12(1):5. doi: 10.1186/s12920-018-0445-8. PMID: 30626445Free PMC Article
Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: two cases and expansion of the phenotype to radial agenesis.
Petit F, Andrieux J, Demeer B, Collet LM, Copin H, Boudry-Labis E, Escande F, Manouvrier-Hanu S, Mathieu-Dramard M
Eur J Med Genet 2013 Feb;56(2):88-92. Epub 2012 Nov 30 doi: 10.1016/j.ejmg.2012.11.002. PMID: 23202277
Correlative roentgenography and morphology of the longitudinal epiphyseal bracket.
Ogden JA, Light TR, Conlogue GJ
Skeletal Radiol 1981;6(2):109-17. doi: 10.1007/BF00347572. PMID: 7256305

Therapy

Surgical Reconstruction of Metatarsal Type Preaxial Polydactyly Using an Amalgamating Osteotomy.
Boyle MJ, Hogue GD, Kasser JR
J Pediatr Orthop 2016 Sep;36(6):e66-70. doi: 10.1097/BPO.0000000000000635. PMID: 26296225

Prognosis

Surgical Reconstruction of Metatarsal Type Preaxial Polydactyly Using an Amalgamating Osteotomy.
Boyle MJ, Hogue GD, Kasser JR
J Pediatr Orthop 2016 Sep;36(6):e66-70. doi: 10.1097/BPO.0000000000000635. PMID: 26296225

Clinical prediction guides

Central polydactyly of the foot: An experience of a treatment of 22 patients.
Ishigaki T, Akita S, Udagawa A, Suzuki H, Mitsukawa N
J Orthop Sci 2023 Mar;28(2):426-431. Epub 2021 Dec 16 doi: 10.1016/j.jos.2021.11.013. PMID: 34922808
Co-occurrence of genomic imbalances on Xp22.1 in the SHOX region and 15q25.2 in a girl with short stature, precocious puberty, urogenital malformations and bone anomalies.
Monzani A, Babu D, Mellone S, Genoni G, Fanelli A, Prodam F, Bellone S, Giordano M
BMC Med Genomics 2019 Jan 9;12(1):5. doi: 10.1186/s12920-018-0445-8. PMID: 30626445Free PMC Article
A 72-year-old Danish puzzle resolved--comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions.
Kjaer KW, Hansen L, Eiberg H, Utkus A, Skovgaard LT, Leicht P, Opitz JM, Tommerup N
Am J Med Genet A 2005 Nov 1;138(4):328-39. doi: 10.1002/ajmg.a.30971. PMID: 16222680

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