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Radial hemimelia

MedGen UID:
539344
•Concept ID:
C0265581
•
Congenital Abnormality
Synonyms: Congenital longitudinal deficiency of the radius; congenital longitudinal deficiency of the radius; Longitudinal deficiency of radius; Longitudinal reduction defect of radius; Radial clubhand; radial clubhand; radial hemimelia; radial longitidinal meromelia; Radial longitidinal meromelia; Radial ray agenesis; radial ray agenesis
SNOMED CT: Longitudinal deficiency of radius (61900003); Longitudinal reduction defect of radius (61900003); Radial hemimelia (61900003)
Modes of inheritance:
Non-Mendelian inheritance
MedGen UID:
109109
•Concept ID:
C0600599
•
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
X-linked recessive inheritance
MedGen UID:
375779
•Concept ID:
C1845977
•
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
See: This record
Non-Mendelian inheritance (Orphanet)
X-linked recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019671
Orphanet: ORPHA93321

Definition

A rare congenital limb malformation characterized by partial or total absence of the radius. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRadial hemimelia

Recent clinical studies

Etiology

Prevalence pattern, phenotypic manifestation, and descriptive genetics of congenital limb deficiencies in Pakistan.
Bibi A, Uddin S, Naeem M, Syed A, Ud-Din Qazi W, Rathore FA, Malik S
Prosthet Orthot Int 2023 Oct 1;47(5):479-485. Epub 2023 Jan 31 doi: 10.1097/PXR.0000000000000204. PMID: 36723395
Congenital radius deficiency: radiographic outcome and survivorship analysis.
Geck MJ, Dorey F, Lawrence JF, Johnson MK
J Hand Surg Am 1999 Nov;24(6):1132-44. doi: 10.1053/jhsu.1999.1132. PMID: 10584933
Preliminary experience with Ilizarov method in late reconstruction of radial hemimelia.
Catagni MA, Szabo RM, Cattaneo R
J Hand Surg Am 1993 Mar;18(2):316-21. doi: 10.1016/0363-5023(93)90367-C. PMID: 8463600
Centralization of the ulna for congenital radial hemimelia: a case report.
Zaricznyj B
J Bone Joint Surg Am 1977 Jul;59(5):694-5. PMID: 873970

Diagnosis

Prevalence pattern, phenotypic manifestation, and descriptive genetics of congenital limb deficiencies in Pakistan.
Bibi A, Uddin S, Naeem M, Syed A, Ud-Din Qazi W, Rathore FA, Malik S
Prosthet Orthot Int 2023 Oct 1;47(5):479-485. Epub 2023 Jan 31 doi: 10.1097/PXR.0000000000000204. PMID: 36723395
A rare case of radius hemimelia: a case report.
Babar TK, Wadhokar OC, Deshmukh MK
Pan Afr Med J 2022;41:304. Epub 2022 Apr 14 doi: 10.11604/pamj.2022.41.304.32909. PMID: 35855028Free PMC Article
Acrofacial dysostosis (Nager syndrome): synopsis and report of a new case.
Pfeiffer RA, Stoess H
Am J Med Genet 1983 Jun;15(2):255-60. doi: 10.1002/ajmg.1320150208. PMID: 6881198

Therapy

Preliminary experience with Ilizarov method in late reconstruction of radial hemimelia.
Catagni MA, Szabo RM, Cattaneo R
J Hand Surg Am 1993 Mar;18(2):316-21. doi: 10.1016/0363-5023(93)90367-C. PMID: 8463600
Limb anomalies in chromosomal aberrations.
Pfeiffer RA, Santelmann R
Birth Defects Orig Artic Ser 1977;13(1):319-37. PMID: 322750

Prognosis

Congenital radius deficiency: radiographic outcome and survivorship analysis.
Geck MJ, Dorey F, Lawrence JF, Johnson MK
J Hand Surg Am 1999 Nov;24(6):1132-44. doi: 10.1053/jhsu.1999.1132. PMID: 10584933
Preliminary experience with Ilizarov method in late reconstruction of radial hemimelia.
Catagni MA, Szabo RM, Cattaneo R
J Hand Surg Am 1993 Mar;18(2):316-21. doi: 10.1016/0363-5023(93)90367-C. PMID: 8463600
Centralization of the ulna for congenital radial hemimelia: a case report.
Zaricznyj B
J Bone Joint Surg Am 1977 Jul;59(5):694-5. PMID: 873970

Clinical prediction guides

Prevalence pattern, phenotypic manifestation, and descriptive genetics of congenital limb deficiencies in Pakistan.
Bibi A, Uddin S, Naeem M, Syed A, Ud-Din Qazi W, Rathore FA, Malik S
Prosthet Orthot Int 2023 Oct 1;47(5):479-485. Epub 2023 Jan 31 doi: 10.1097/PXR.0000000000000204. PMID: 36723395
Limb anomalies in chromosomal aberrations.
Pfeiffer RA, Santelmann R
Birth Defects Orig Artic Ser 1977;13(1):319-37. PMID: 322750

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