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Results 1 - 5 of 5 for Metaphyseal dysplasia
  1. RMRP gene 
    ... may result in a similar disorder known as metaphyseal dysplasia without hypotrichosis. This condition is characterized by short ... those seen in cartilage-hair hypoplasia. Individuals with metaphyseal dysplasia without hypotrichosis do not have any changes in ...
    https://medlineplus.gov/genetics/gene/rmrp - Genetics
  2. RUNX2 gene 
    ... of the RUNX2 gene causes a disorder called metaphyseal dysplasia, maxillary hypoplasia, and brachydactyly (MDMHB). This condition is ... factor alpha A subunit Tests of RUNX2 PubMed METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY; MDMHB ...
    https://medlineplus.gov/genetics/gene/runx2 - Genetics
  3. CDKN1C gene 
    ... named for its main features: intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. The condition ...
    https://medlineplus.gov/genetics/gene/cdkn1c - Genetics
  4. SFRP4 gene 
    ... found in individuals with a bone disorder called Pyle disease. This condition is characterized by a bone abnormality ... paddle. Other bones may also be abnormal in Pyle disease, including the collar bones (clavicles), ribs, and bones ...
    https://medlineplus.gov/genetics/gene/sfrp4 - Genetics
  5. COL2A1 gene 
    ... properly, which causes the characteristic features of spondyloepiphyseal dysplasia with marked metaphyseal changes. More About This Health Condition Several variants ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics