Results 1 -
10
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21
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Severe short stature
- ... people with anauxetic dysplasia, a disorder characterized by severe short stature (dwarfism) and other skeletal abnormalities. The RMRP gene ... dysplasia without hypotrichosis. This condition is characterized by short ... less severe than those seen in cartilage-hair hypoplasia. Individuals ...
- ... chromosomes.) Signs and symptoms in affected males include severe intellectual disability, short stature, obesity, breast enlargement (gynecomastia), reduced production of sex ...
- ... with Rubinstein-Taybi syndrome, a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs ...
- ... cause Rubinstein-Taybi syndrome, a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs ...
- ... Needles syndrome. This condition is typically the most severe of the otopalatodigital spectrum disorders (described above). It involves abnormalities in skeletal development, causing short stature, abnormal curvature of the spine, partial dislocation of ...
- ... hair, small head size (microcephaly), distinctive facial features, short stature, abnormal fingers, recurrent seizures (epilepsy), and moderate to severe intellectual disability with impaired language development. Almost all ...
- ... 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 ...
- ... buildup of too much iron (iron overload), and short stature in people with CDA type IV. The anemia in CDA type IV often begins prenatally or soon after birth, and it is typically severe. The KLF1 gene variant leads to a change ...
- ... deficiency, a condition characterized by slow growth and short stature. Mutations that prevent the production of growth hormone, such as a deletion of a large section of the gene, result in isolated growth hormone deficiency type IA and severe growth failure by age 6 months. GH1 gene ...
- ... immuno-osseous dysplasia. This condition is characterized by short stature, ... tend to have a more severe form of this disorder than those who have ...
