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Results 1 - 8 of 8 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. 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
  4. 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
  5. 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
  6. 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
  7. Osteoglophonic dysplasia 
    ... Smith TH, Sweet DE. Craniofacial dysotosis with fibrous metaphyseal deffects. Am J ... Dysplasia: Phenotypic and Radiological Clues. J Pediatr Genet. 2017 ...
    https://medlineplus.gov/genetics/condition/osteoglophonic-dysplasia - Genetics
  8. Cartilage-hair hypoplasia 
    ... type Metaphyseal chondrodysplasia, recessive type ... phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. Am J Hum Genet. 2007 Sep;81( ...
    https://medlineplus.gov/genetics/condition/cartilage-hair-hypoplasia - Genetics