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Osteosclerosis - Stanescu type

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Craniofacial dysostosis with diaphyseal hyperplasia; Dysostosis Stanescu type
SNOMED CT: Osteosclerosis - Stanescu type (254124008)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Monarch Initiative: MONDO:0007396
OMIM®: 122900
Orphanet: ORPHA1798


Stanescu type dysostosis is a rare form of osteosclerosis. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOsteosclerosis - Stanescu type
Follow this link to review classifications for Osteosclerosis - Stanescu type in Orphanet.

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