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Metaphyseal anadysplasia 2(MANDP2)

MedGen UID:
414350
•Concept ID:
C2751322
•
Disease or Syndrome
Synonyms: MANDP2; Metaphyseal anadysplasia 2, autosomal recessive
 
Gene (location): MMP9 (20q13.12)
 
Monarch Initiative: MONDO:0013113
OMIM®: 613073

Definition

Any metaphyseal anadysplasia in which the cause of the disease is a mutation in the MMP9 gene. [from MONDO]

Clinical features

From HPO
Micromelia
MedGen UID:
10031
•Concept ID:
C0025995
•
Congenital Abnormality
The presence of abnormally small extremities.
See: Feature record | Search on this feature
Genu varum
MedGen UID:
154257
•Concept ID:
C0544755
•
Finding
A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.
See: Feature record | Search on this feature
Short femoral neck
MedGen UID:
373033
•Concept ID:
C1836184
•
Finding
An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
See: Feature record | Search on this feature
Metaphyseal irregularity
MedGen UID:
325478
•Concept ID:
C1838662
•
Finding
Irregularity of the normally smooth surface of the metaphyses.
See: Feature record | Search on this feature
Metaphyseal widening
MedGen UID:
341364
•Concept ID:
C1849039
•
Finding
Abnormal widening of the metaphyseal regions of long bones.
See: Feature record | Search on this feature
Bowing of the legs
MedGen UID:
1807399
•Concept ID:
C5574706
•
Finding
A bending or abnormal curvature affecting a long bone of the leg.
See: Feature record | Search on this feature
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Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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