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Spondylometaphyseal dysplasia, Czarny-Ratajczak type

MedGen UID:
960295
Concept ID:
CN277267
Disease or Syndrome
Synonym: spondylometaphyseal dysplasia, Czarny-Ratajczak type
 
Monarch Initiative: MONDO:0018255
Orphanet: ORPHA370019

Definition

Spondylometaphyseal dysplasia, Czarny-Ratajczak type is a rare primary bone dysplasia disorder characterized by short stature with severe shortening of limbs, genu vara deformity and enlarged joints with movement limitation particularly affecting the hip joints. Radiological findings show coxa vara, generalized metaphyseal irregularities of the tubular bones (including cupping, fraying and splaying) which is more severe in the femur and forearm bones than the metacarpals and phalanges, and vertebral abnormalities including ovoid vertebral bodies with anterior rectangular protrusions, and severe platyspondyly. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpondylometaphyseal dysplasia, Czarny-Ratajczak type

Recent clinical studies

Diagnosis

Bieganski T, Beighton P, Lukaszewski M, Bik K, Kuszel L, Wasilewska E, Kozlowski K, Czarny-Ratajczak M
Eur J Med Genet 2017 Oct;60(10):509-516. Epub 2017 Jul 4 doi: 10.1016/j.ejmg.2017.07.004. PMID: 28687525Free PMC Article
Czarny-Ratajczak M, Chrzanowska K, Bieganski T, Sulko J, Baranska D, Kocyla-Karczmarewicz B, Kuszel L, Jakubowski L, Niedzielski K, Kozlowski K
Am J Med Genet A 2009 Oct;149A(10):2166-72. doi: 10.1002/ajmg.a.33016. PMID: 19764033

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