short-limb skeletal dysplasia with severe combined immunodeficiency
Findings
No curated finding names short-limb skeletal dysplasia with severe combined immunodeficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0008704), read 2026-09-29. CC BY 4.0.
Features
18 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal metaphysis morphologyHPOHP:0000944
- Very frequent (80% to 99% of cases)
- Cellular immunodeficiencyHPOHP:0005374
- Very frequent (80% to 99% of cases)
- Decreased total lymphocyte countHPOHP:0001888
- Very frequent (80% to 99% of cases)
- Recurrent respiratory infectionsHPOHP:0002205
- Very frequent (80% to 99% of cases)
- Severe combined immunodeficiencyHPOHP:0004430
- Very frequent (80% to 99% of cases)
- AgammaglobulinemiaHPOHP:0004432
- Frequent (30% to 79% of cases)
Show the remaining 6
- Cognitive impairmentHPOHP:0100543
- Occasional (5% to 29% of cases)
- Inguinal herniaHPOHP:0000023
- Occasional (5% to 29% of cases)
- Long fibulaHPOHP:0003085
- Occasional (5% to 29% of cases)
- MalabsorptionHPOHP:0002024
- Occasional (5% to 29% of cases)
- Pectus excavatumHPOHP:0000767
- Occasional (5% to 29% of cases)
- White hairHPOHP:0011364
- Occasional (5% to 29% of cases)
Where it sits
Other names
5 names
Resolves to: short-limb skeletal dysplasia with severe combined immunodeficiency
- Also called
- achondroplasia-SCID syndromeachondroplasia-severe combined immunodeficiency syndromeachondroplasia-Swiss type agammaglobulinemia syndromeimmunodeficiency-short limb dwarfism syndromeshort limb skeletal dysplasia with SCID