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Abnormality of the medullary cavity of the long bones

MedGen UID:
Concept ID:
Anatomical Abnormality
Synonym: Abnormality of the marrow cavity of the long bones
HPO: HP:0100253


An abnormality of the medullary cavity (medulla, innermost part), which is the central cavity of bone shafts where red bone marrow and/or yellow bone marrow (adipose tissue) is stored. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of the medullary cavity of the long bones

Conditions with this feature

Autosomal dominant Kenny-Caffey syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
A rare, primary bone dysplasia characterized by severe growth retardation, short stature, cortical thickening and medullary stenosis of long bones, delayed closure of the anterior fontanelle, absent diploic space in the skull bones, prominent forehead, macrocephaly, dental anomalies, eye problems (hypermetropia and pseudopapilledema), and hypocalcemia due to hypoparathyroidism, sometimes resulting in convulsions. Intelligence is normal.

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