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Results 1 - 10 of 100 for Severe short stature
  1. Osteoglophonic dysplasia 
    ... characterized by abnormal bone growth that leads to severe head and face (craniofacial) abnormalities, short stature, and other features. The term osteoglophonic refers to ...
    https://medlineplus.gov/genetics/condition/osteoglophonic-dysplasia - Genetics
  2. Rubinstein-Taybi syndrome 
    Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs ...
    https://medlineplus.gov/genetics/condition/rubinstein-taybi-syndrome - Genetics
  3. Hereditary spherocytosis 
    ... risk for developing gallstones. Some individuals with the severe form have short stature, delayed sexual development, and skeletal abnormalities. Hereditary spherocytosis ...
    https://medlineplus.gov/genetics/condition/hereditary-spherocytosis - Genetics
  4. Septo-optic dysplasia 
    ... deficiency, which results in slow growth and unusually short stature. Severe cases cause panhypopituitarism, a condition in which the ...
    https://medlineplus.gov/genetics/condition/septo-optic-dysplasia - Genetics
  5. Achondroplasia 
    ... the features of achondroplasia tend to be more severe.All people with achondroplasia have short stature. Without treatment, the average height of an adult ...
    https://medlineplus.gov/genetics/condition/achondroplasia - Genetics
  6. Spastic paraplegia type 49 
    ... falls. In addition, affected individuals have moderate to severe intellectual disability and distinctive physical features, including short stature; chubbiness; an unusually small head size (microcephaly); a ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-49 - Genetics
  7. Warsaw breakage syndrome 
    ... have intellectual disability that varies from mild to severe. They also have impaired growth from birth leading to short stature and a small head size (microcephaly). Affected individuals ...
    https://medlineplus.gov/genetics/condition/warsaw-breakage-syndrome - Genetics
  8. Cornelia de Lange syndrome 
    ... affected individuals and range from relatively mild to severe.Cornelia de Lange syndrome is characterized by slow growth before and after birth leading to short stature; intellectual disability that is usually moderate to severe; ...
    https://medlineplus.gov/.../condition/cornelia-de-lange-syndrome - Genetics
  9. 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
  10. Galactosialidosis 
    ... although the signs and symptoms are somewhat less severe and begin later in infancy. This form is characterized by short stature, dysostosis multiplex, heart valve problems, hepatosplenomegaly, and "coarse" ...
    https://medlineplus.gov/genetics/condition/galactosialidosis - Genetics
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