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Meromelia

MedGen UID:
539327
Concept ID:
C0265549
Congenital Abnormality
Synonyms: Congenital absence of part of limb; Partial congenital absence of limb
SNOMED CT: Partial congenital absence of limb (60220000); Meromelia (60220000); Congenital absence of part of limb (60220000)
 
HPO: HP:0030728

Definition

Partial absence of a free limb (excluding girdle). It can refer to the proximal, middle or distal segment of the upper or lower limb. The deficiency may be transverse or longitudinal. Thus, meromelia is a lack of a part, but not all, of one or more limbs with the presence of a hand or foot. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMeromelia

Recent clinical studies

Etiology

Cortés-Enríquez OD, Tapia-Fonseca CV, Torres-Fuentes MA, Torres-Riojas PB, Raya-Garza LP
Birth Defects Res 2024 Mar;116(3):e2322. doi: 10.1002/bdr2.2322. PMID: 38441368
Gupta P, Kumar A
Fetal Pediatr Pathol 2014 Apr;33(2):92-7. Epub 2013 Dec 13 doi: 10.3109/15513815.2013.864348. PMID: 24328941
Padmanabhan R, Hameed MS
Reprod Toxicol 1990;4(4):291-304. doi: 10.1016/0890-6238(90)90041-s. PMID: 1726510

Diagnosis

Cortés-Enríquez OD, Tapia-Fonseca CV, Torres-Fuentes MA, Torres-Riojas PB, Raya-Garza LP
Birth Defects Res 2024 Mar;116(3):e2322. doi: 10.1002/bdr2.2322. PMID: 38441368
Chawla D, Marwah P
Indian J Pediatr 2014 Dec;81(12):1422. Epub 2014 Jan 21 doi: 10.1007/s12098-013-1317-z. PMID: 24445983
Gupta P, Kumar A
Fetal Pediatr Pathol 2014 Apr;33(2):92-7. Epub 2013 Dec 13 doi: 10.3109/15513815.2013.864348. PMID: 24328941
Yapar EG, Ekici E, Gökmen O
Clin Dysmorphol 1995 Jul;4(3):266-71. PMID: 7551166

Prognosis

Punia RP, Dhingra N, Chopra R, Mohan H, Huria A
Congenit Anom (Kyoto) 2009 Mar;49(1):33-4. doi: 10.1111/j.1741-4520.2008.00210.x. PMID: 19243415
Wenz W, Schweinfurth M, Wenz D
Pediatr Rehabil 1998 Jul-Sep;2(3):123-8. doi: 10.3109/17518429809057423. PMID: 9864745

Clinical prediction guides

Pors J, Philipp T, Terry J
Fetal Pediatr Pathol 2021 Dec;40(6):597-604. Epub 2020 Mar 6 doi: 10.1080/15513815.2020.1732509. PMID: 32138576
Ratan SK, Rattan KN, Ratan J, Sodhi PK, Bhatia V
Pediatr Surg Int 2005 Oct;21(10):825-8. Epub 2005 Oct 21 doi: 10.1007/s00383-005-1515-5. PMID: 16195913
Padmanabhan R, Naruse I, Shiota K
Am J Med Genet 1999 Nov 19;87(2):115-27. doi: 10.1002/(sici)1096-8628(19991119)87:2<115::aid-ajmg2>3.0.co;2-1. PMID: 10533025
Padmanabhan R, Hameed MS
Reprod Toxicol 1990;4(4):291-304. doi: 10.1016/0890-6238(90)90041-s. PMID: 1726510

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