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Short-limb skeletal dysplasia with severe combined immunodeficiency

MONDO:0008704

Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.

Also known as: achondroplasia-SCID syndrome, achondroplasia-Swiss type agammaglobulinemia syndrome, achondroplasia-severe combined immunodeficiency syndrome, immunodeficiency-short limb dwarfism syndrome, short limb skeletal dysplasia with SCID, short-limb skeletal dysplasia with severe combined immunodeficiency, SLSD with SCID, Slsd with SCID

16 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Hereditary disease (172) Immune system disorder (140) Immunodeficiency disease (48) Severe combined immunodeficiency (21) Human disease (14) Combined immunodeficiency (3) Disease of genetic or genomic mechanism (2) Disease by body system or component (0) Disease by etiologic mechanism (0)
Trials to join now! 11 Completed 4 Terminated 1
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