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Start free with EleplanShort-limb skeletal dysplasia with severe combined immunodeficiency
ORPHA:935Disease
Also called Achondroplasia-SCID syndrome · Achondroplasia-Swiss type agammaglobulinemia syndrome · Achondroplasia-severe combined immunodeficiency syndrome · Immunodeficiency-short limb dwarfism syndrome · Short limb skeletal dysplasia with SCID
What it is
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.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Not applicable
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
5Sometimes5–29%
9- Abnormality of the pancreas
- Aganglionic megacolon
- Anemia
- Cognitive impairment
- Inguinal hernia
- Long fibula
- Malabsorption
- Pectus excavatum
and 1 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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