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Peg-like central prominence of distal tibial metaphyses

MedGen UID:
Concept ID:
HPO: HP:0006423

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPeg-like central prominence of distal tibial metaphyses

Conditions with this feature

Spondyloepimetaphyseal dysplasia, Bieganski type
MedGen UID:
Concept ID:
Disease or Syndrome
X-linked spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy (SEMDHL) is an X-linked recessive developmental disorder characterized by slowly progressive skeletal and neurologic abnormalities, including short stature, large and deformed joints, significant motor impairment, visual defects, and sometimes cognitive deficits. Affected individuals typically have normal early development in the first year or so of life, followed by development regression and the development of symptoms. Brain imaging shows white matter abnormalities consistent with hypomyelinating leukodystrophy (summary by Miyake et al., 2017).

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