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1.

Dyggve-Melchior-Clausen syndrome

Dyggve-Melchior-Clausen disease (DMC) is an autosomal recessive disorder characterized by progressive spondyloepimetaphyseal dysplasia and impaired intellectual development. Short-trunk dwarfism and microcephaly are present, and specific radiologic appearances most likely reflect abnormalities of the growth plates, including platyspondyly with notched end plates, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small iliac wings with lacy iliac crests (summary by El Ghouzzi et al., 2003). [from OMIM]

MedGen UID:
120527
Concept ID:
C0265286
Disease or Syndrome
2.

Smith-McCort dysplasia 1

Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the DYM gene. [from MONDO]

MedGen UID:
854757
Concept ID:
C3888088
Disease or Syndrome
3.

Deformed sella turcica

MedGen UID:
335425
Concept ID:
C1846437
Finding
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