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Results 1 - 10 of 13 for Metaphyseal dysplasia
  1. Pyle disease 
    ... may have mild abnormalities of the long bones. Metaphyseal dysplasia, Pyle type Pyle metaphyseal dysplasia Pyle's disease Pyle's metaphyseal dysplasia syndrome ...
    https://medlineplus.gov/genetics/condition/pyle-disease - Genetics
  2. IMAGe syndrome 
    The combination of intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies is commonly known by the acronym IMAGe. This rare syndrome has signs and symptoms that affect ...
    https://medlineplus.gov/genetics/condition/image-syndrome - Genetics
  3. 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
  4. 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
  5. Spondyloepiphyseal dysplasia with marked metaphyseal changes 
    ... the disorder in their family. SED with marked metaphyseal changes Spondyloepimetaphyseal dysplasia, COL2A1-related Genetic Testing Registry: Spondyloepimetaphyseal dysplasia, Strudwick ...
    https://medlineplus.gov/...dysplasia-with-marked-metaphyseal-changes - Genetics
  6. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy 
    ... Registry: Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia Genetic Testing Registry: Polyglandular autoimmune syndrome, type 1 ...
    https://medlineplus.gov/...inopathy-candidiasis-ectodermal-dystrophy - Genetics
  7. Cranioectodermal dysplasia 
    ... the long bones of the arms and legs (metaphyseal dysplasia) lead to short limbs and short stature. In ...
    https://medlineplus.gov/.../condition/cranioectodermal-dysplasia - Genetics
  8. Spondyloenchondrodysplasia with immune dysregulation 
    ... the ends of long bones in the limbs (metaphyseal dysplasia), and areas of damage (lesions) on the long ...
    https://medlineplus.gov/...hondrodysplasia-with-immune-dysregulation - Genetics
  9. 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
  10. 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
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