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Results 1 - 10 of 10 for Severe "short-limb" dwarfism
  1. FGFR3 gene 
    ... gene has been identified in people with SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans). SADDAN is characterized by short-limb dwarfism (achondroplasia); profound developmental delay; and thick, dark, velvety ...
    https://medlineplus.gov/genetics/gene/fgfr3 - Genetics
  2. Anauxetic dysplasia 
    ... in this disorder.People with anauxetic dysplasia have dwarfism with unusually ... and paralysis. In severe cases, the spinal cord compression may lead to ...
    https://medlineplus.gov/genetics/condition/anauxetic-dysplasia - Genetics
  3. Peters plus syndrome 
    ... syndrome Krause-van Schooneveld-Kivlin syndrome Peters anomaly-short limb dwarfism syndrome Peters' plus syndrome Peters'-plus syndrome Genetic ...
    https://medlineplus.gov/genetics/condition/peters-plus-syndrome - Genetics
  4. Thanatophoric dysplasia 
    Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra (redundant) skin on the arms and legs. Other features of this condition include a narrow chest, ...
    https://medlineplus.gov/genetics/condition/thanatophoric-dysplasia - Genetics
  5. Osteochondrodysplasias (Merck & Co., Inc.)  
    achondroplasia,short stature,connective tissue disorder,short limbs,dwarf,dwarves,little people,little person,dwarfism
    https://www.merckmanuals.com/.../osteochondrodysplasias - External Health Links
  6. COL2A1 gene 
    ... gene have been found to cause hypochondrogenesis, a severe disorder of bone growth characterized by a small body, short limbs, and abnormal bone formation in the spine and ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  7. Laron syndrome 
    ... type pituitary dwarfism Laron-type short stature Pituitary dwarfism II Primary GH resistance Primary growth hormone resistance Severe GH insensitivity Genetic Testing Registry: Laron-type isolated ...
    https://medlineplus.gov/genetics/condition/laron-syndrome - Genetics
  8. Dwarfism (Mayo Foundation for Medical Education and Research)  
    Dwarfism/Start Here ... Dwarfism ... Mayo Foundation for Medical Education and Research
    https://www.mayoclinic.org/.../symptoms-causes/syc-20371969?p=1 - External Health Links
  9. Cartilage-hair hypoplasia 
    ... disorder of bone growth characterized by short stature (dwarfism) with other ... unusually short limbs and short stature from birth. They typically have ...
    https://medlineplus.gov/genetics/condition/cartilage-hair-hypoplasia - Genetics
  10. Hypochondroplasia 
    ... 3 mutations in achondroplasia and related forms of dwarfism. Rev Endocr Metab Disord. 2002 Dec;3(4): ...
    https://medlineplus.gov/genetics/condition/hypochondroplasia - Genetics