Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency

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OMIM 56 200900 MESH via Orphanet 44 C536020 ICD10 via Orphanet 33 D82.2 UMLS via Orphanet 72 C1860168 C2931087

Orphanet 58 ORPHA935 MedGen 41 C1860168 SNOMED-CT via HPO 68 119249001 165397008 204739008 247546006 258211005 271737000 28681006 297993006 31323000 33995003 367495003 3855007 386806002 391987005 396232000 48813009 93297002 more

NIH Rare Diseases : ⁵² Achondroplasia with severe combined immunodeficiency is an extremely rare type of SCID . The condition is characterized by the classic signs of SCID, including severe and recurrent infections, diarrhea, failure to thrive , and absence of T and B lymphocytes along with skeletal anomalies like short stature , bowing of the long bones and other abnormalities affecting the ends of the long bones (metaphyseal abnormalities). Children with this condition have a shortened life expectancy, generally surviving only into early childhood. Achondroplasia with severe combined immunodeficiency is inherited in an autosomal recessive manner.

MalaCards based summary : Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency, also known as achondroplasia-severe combined immunodeficiency syndrome, is related to adenosine deaminase deficiency and severe combined immunodeficiency. Affiliated tissues include bone, thymus and pancreas, and related phenotypes are recurrent respiratory infections and abnormality of the metaphysis

More information from OMIM: 200900

Clinical features from OMIM:

200900

Search Clinical Trials , NIH Clinical Center for Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency

Search GEO for disease gene expression data for Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency.