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1.

Craniometadiaphyseal osteosclerosis with hip dysplasia

Craniometadiaphyseal osteosclerosis with hip dysplasia (CMDOH) is characterized by macrocephaly, cranial hyperostosis, and vertebral endplate sclerosis. Other frequent findings include hip dysplasia, heart malformations, variable developmental delay, and hematologic anomalies including anemia and pancytopenia. Bone biopsy shows evidence of increased osteoblast and reduced osteoclast function at the growth plate resorption zone, resulting in coarse trabeculae (Terhal et al., 2023). For syndromes with overlapping features, see osteopetrosis, autosomal recessive (OPTB1; 259700) and dominant (OPTA1; 607634), and osteopathia with cranial sclerosis (OSCS; 300373). [from OMIM]

MedGen UID:
1844026
Concept ID:
C5882710
Disease or Syndrome
2.

Spondylometaphyseal dysplasia with corneal dystrophy

Spondylometaphyseal dysplasia with corneal dystrophy (SMDCD) is characterized by short stature due to short proximal and distal long bones. Affected individuals also exhibit narrow thorax with pulmonary hypoplasia and respiratory failure, as well as corneal dystrophy. Severe developmental delay has been observed (Ben-Salem et al., 2018). [from OMIM]

MedGen UID:
1714019
Concept ID:
C5394555
Disease or Syndrome
3.

Coarse metaphyseal trabecularization

Coarse appearance of the components of the network of osseous tissue that makes up the cancellous structure of a bone, i.e., thickening of the (usually fine) white lines that are produced by trabeculae in radiograms. [from HPO]

MedGen UID:
866612
Concept ID:
C4020958
Anatomical Abnormality
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