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1.

Spondyloepimetaphyseal dysplasia, Bieganski type

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). [from OMIM]

MedGen UID:
335350
Concept ID:
C1846148
Disease or Syndrome
2.

Peg-like central prominence of distal tibial metaphyses

MedGen UID:
337522
Concept ID:
C1846160
Finding

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