Rhizomelic dysplasia

MedGen UID:: 887965
•Concept ID:: C4053766
•: Disease or Syndrome

Synonym:	Rhizomelic Dysplasia
SNOMED CT:	Rhizomelic dysplasia (1263463009)

Definition

Rhizomelic dysplasia is proximal shortening of the limb. In the upper limb this is shortening of the humerus and in the lower limb the femur. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVRhizomelic dysplasia

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Non-Neoplastic Disorder
      - Non-Neoplastic Disorder by Special Category
        Rare Non-Neoplastic Disorder
        Rhizomelic dysplasia

Professional guidelines

PubMed

Prenatal diagnosis to identify compound heterozygous variants in PKDCC that causes rhizomelic limb shortening with dysmorphic features in a fetus from China.

Yan L, Cao J, Zhang Y, Liu Y, Zou J, Lou B, Zhuang D, Li H
BMC Med Genomics 2023 Aug 17;16(1):190. doi: 10.1186/s12920-023-01631-7. PMID: 37592254 Free PMC Article

Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients.

Jacob P, Bhavani GSL, Shah H, Galada C, Nampoothiri S, Kamath N, Phadke SR, Muranjan M, Datar CA, Shukla A, Girisha KM
Am J Med Genet A 2022 Mar;188(3):751-759. Epub 2021 Nov 9 doi: 10.1002/ajmg.a.62566. PMID: 34750995

Achondroplasia: from genotype to phenotype.

Richette P, Bardin T, Stheneur C
Joint Bone Spine 2008 Mar;75(2):125-30. Epub 2007 Sep 25 doi: 10.1016/j.jbspin.2007.06.007. PMID: 17950653

See all (7)

Recent clinical studies

Etiology

Plate fixation after lengthening with an external fixator in patients with achondroplasia : A comparative study between two centers.

Uzer G, Balcı Hİ, Aliyev O, Ezici V, Demirkıran CB, Yıldız F, Şen C
Orthopadie (Heidelb) 2023 Jan;52(1):48-53. Epub 2022 Oct 24 doi: 10.1007/s00132-022-04306-w. PMID: 36280609

A second individual with rhizomelic spondyloepimetaphyseal dysplasia and homozygous variant in GNPNAT1.

Sabbagh Q, Alkar F, Patte K, Prodhomme O, Janel C, Touraine R, Jeandel C, Geneviève D
Eur J Med Genet 2022 Jun;65(6):104495. Epub 2022 Apr 12 doi: 10.1016/j.ejmg.2022.104495. PMID: 35427807

See all (2)

Diagnosis

Patterson-Lowry rhizomelic dysplasia: report of two new patients.

Franceschini P, Licata D, Guala A, Ingrosso G, Di Cara G, Franceschini D
Am J Med Genet A 2004 May 15;127A(1):86-92. doi: 10.1002/ajmg.a.20638. PMID: 15103724

Patterson-Lowry rhizomelic dysplasia: a potentially lethal bone dysplasia?

Kamoda T, Nakajima R, Matsui A, Nishimura G
Pediatr Radiol 2001 Feb;31(2):81-3. doi: 10.1007/s002470000401. PMID: 11214690

Patterson-Lowry rhizomelic dysplasia: a possible second example.

Williams MS, Josephson KD, Pauli RM
Clin Dysmorphol 1995 Jul;4(3):216-21. PMID: 7551157

See all (3)

Prognosis

TMEM263: a novel candidate gene implicated in human autosomal recessive severe lethal skeletal dysplasia.

Mohajeri MSA, Eslahi A, Khazaii Z, Moradi MR, Pazhoomand R, Farrokhi S, Feizabadi MH, Alizadeh F, Mojarrad M
Hum Genomics 2021 Jul 8;15(1):42. doi: 10.1186/s40246-021-00343-2. PMID: 34238371 Free PMC Article

Lethal non-rhizomelic dysplasia epiphysealis punctata.

Kozlowski K, Godlonton J, Gardner J, Beighton P
Clin Dysmorphol 2002 Jul;11(3):203-8. doi: 10.1097/00019605-200207000-00011. PMID: 12072802

See all (2)