{"Name":"Short-limb skeletal dysplasia with severe combined immunodeficiency","DiseaseID__c":"GARD:0002988","id":2988,"encodedName":"short-limb-skeletal-dysplasia-with-severe-combined-immunodeficiency","IsDeleted":false,"Disease_Name_Full__c":"Short-limb skeletal dysplasia with severe combined immunodeficiency","Xref_IDs__c":"789777007; C1860168; C565984; MEDGEN:348040; MONDO:0008704; OMIM:200900; ORPHA:935","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008704","Disease_Description__c":"An extremely rare type of severe combined immunodeficiency (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.","GARD_Name__c":"Short-limb skeletal dysplasia with severe combined immunodeficiency","GARD_Synonym__c":"achondroplasia-scid syndrome; achondroplasia-severe combined immunodeficiency syndrome; achondroplasia-swiss type agammaglobulinemia syndrome; achondroplasia, severe combined immunodeficiency syndrome; immunodeficiency-short limb dwarfism syndrome; immunodeficiency, short limb dwarfism syndrome; short limb skeletal dysplasia with scid; slsd with scid","Curated_Disease_Description_Source__c":"GARD:0002988","Curated_Disease_Description__c":"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). Achondroplasia with severe combined immunodeficiency is inherited in an autosomal recessive manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:935","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008704","ORPHANET_ID__c":"ORPHA:935","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia esquelética de las extremidades cortas con inmunodeficiencia combinada grave","Spanish_Description_Source__c":"ORPHA:935","Spanish_Description__c":"Es un tipo extremadamente infrecuente de inmunodeficiencia combinada grave (IDCG) que se caracteriza por los signos clásicos de la IDCG T-B (infecciones graves y recurrentes, diarrea, fallo de medro, ausencia de linfocitos T y B), asociados a anomalías esqueléticas como tall baja, incurvación de los huesos largos y anomalías metafisarias de grado variable.","Spanish_Disease_Name__c":"displasia esquelética de las extremidades cortas con inmunodeficiencia combinada grave","Spanish_GARD_Synonym__c":"displasia esquelética de extremidades cortas con idcg; displasia esquelética de extremidades cortas con scid; síndrome de acondroplasia-agammaglobulinemia tipo suizo; síndrome de acondroplasia-idcg; síndrome de acondroplasia-inmunodeficiencia combinada grave; síndrome de acondroplasia-scid; síndrome de inmunodeficiencia-enanismo de extremidades cortas","Category_Linearization__c":"ORPHA:98004","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"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). Achondroplasia with severe combined immunodeficiency is inherited in an autosomal recessive manner.","Curated_Disease_Description_Source__c":"GARD:0002988","GARD_Synonym__c":"achondroplasia-scid syndrome; achondroplasia-severe combined immunodeficiency syndrome; achondroplasia-swiss type agammaglobulinemia syndrome; achondroplasia, severe combined immunodeficiency syndrome; immunodeficiency-short limb dwarfism syndrome; immunodeficiency, short limb dwarfism syndrome; short limb skeletal dysplasia with scid; slsd with scid","Name":"Short-limb skeletal dysplasia with severe combined immunodeficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Immune Deficiency Foundation","Website__c":"https://www.primaryimmune.org/"},{"Account_Name__c":"United States Immunodeficiency Network","Website__c":"https://www.usidnet.org"},{"Account_Name__c":"Little People UK","Website__c":"https://littlepeopleuk.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Immunology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Primary Immune Deficiencies","Tag_Category__c":"Account","curated_tag_name":"Primary immunodeficiency"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:935"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:935"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565984","Source__c":"MONDO:0008704","Xref__c":"C565984"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1860168","Source__c":"C1860168","Xref__c":"C1860168"},{"URL__c":"https://www.omim.org/entry/200900","Source__c":"C1860168; MONDO:0008704; ORPHA:935","Xref__c":"OMIM:200900"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=348040","Source__c":"C1860168","Xref__c":"MEDGEN:348040"},{"URL__c":"https://www.orpha.net/en/disease/detail/935","Source__c":"C1860168; MONDO:0008704; ORPHA:935","Xref__c":"ORPHA:935"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=789777007","Source__c":"C1860168","Xref__c":"789777007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008704","Source__c":"GARD:0002988","Xref__c":"MONDO:0008704"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:935","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypopigmented hair that appears white.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011364","HPO_Synonym__c":"White hair","HPO_Name__c":"White hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:935","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002205","HPO_Synonym__c":"Frequent respiratory infections; Multiple respiratory infections; Recurrent respiratory infections; respiratory infections, recurrent; Susceptibility to respiratory infections","HPO_Name__c":"Recurrent respiratory infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:935","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Disproportionately long fibulae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003085","HPO_Synonym__c":"Disproportionately long fibula; Long calf bone; Long fibula","HPO_Name__c":"Long fibula","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:935","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hair that is fine or thin to the touch.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002213","HPO_Synonym__c":"Fine hair; Fine hair shaft; Fine hair texture; Thin hair; Thin hair shaft; Thin hair texture; Thinned hair","HPO_Name__c":"Fine hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:935","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004422","HPO_Name__c":"Biparietal narrowing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:935","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004432","HPO_Synonym__c":"Agammaglobulinaemia","HPO_Name__c":"Agammaglobulinemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:935","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Protrusion of the contents of the abdominal cavity through the inguinal canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000023","HPO_Name__c":"Inguinal hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:935","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100543","HPO_Synonym__c":"Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment","HPO_Name__c":"Cognitive impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:935","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002251","HPO_Synonym__c":"Enlarged colon lacking nerve cells; Hirschsprung megacolon","HPO_Name__c":"Aganglionic megacolon","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:935","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A defect of the chest wall characterized by a depression of the sternum, giving the chest (\\\"pectus\\\") a caved-in (\\\"excavatum\\\") appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000767","HPO_Synonym__c":"Funnel chest","HPO_Name__c":"Pectus excavatum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:935","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004349","HPO_Synonym__c":"Decreased bone mineral density; Decreased bone mineral density Z score; Low solidness and mass of the bones","HPO_Name__c":"Reduced bone mineral density","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:935","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:935","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduced number of lymphocytes in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001888","HPO_Synonym__c":"Absolute lymphocyte count decrease; Decreased blood lymphocyte number; Low lymphocyte number; Lymphocytopenia; Lymphopenia","HPO_Name__c":"Decreased total lymphocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:935","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impaired ability to absorb one or more nutrients from the intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002024","HPO_Synonym__c":"Intestinal malabsorption; Malabsorption","HPO_Name__c":"Malabsorption","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:935","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000944","HPO_Synonym__c":"Abnormality of the wide portion of a long bone","HPO_Name__c":"Abnormal metaphysis morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:935","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004430","HPO_Synonym__c":"Immunodeficiency, severe combined","HPO_Name__c":"Severe combined immunodeficiency","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:935","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005374","HPO_Name__c":"Cellular immunodeficiency","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:935","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001732","HPO_Synonym__c":"Abnormality of the pancreas","HPO_Name__c":"Abnormality of the pancreas","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["achondroplasia-scid syndrome"," achondroplasia-severe combined immunodeficiency syndrome"," achondroplasia-swiss type agammaglobulinemia syndrome"," achondroplasia, severe combined immunodeficiency syndrome"," immunodeficiency-short limb dwarfism syndrome"," immunodeficiency, short limb dwarfism syndrome"," short limb skeletal dysplasia with scid"," slsd with scid"]}