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Short-limb skeletal dysplasia with severe combined immunodeficiency

Disease definition

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.

ORPHA:935

Classification level: Disorder
  • Synonym(s):
    • Achondroplasia-SCID syndrome
    • Achondroplasia-Swiss type agammaglobulinemia syndrome
    • Achondroplasia-severe combined immunodeficiency syndrome
    • Immunodeficiency-short limb dwarfism syndrome
    • Short limb skeletal dysplasia with SCID
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable 
  • Age of onset: Neonatal, Infancy
  • ICD-10: D82.2
  • ICD-11: 4A01.10
  • OMIM: 200900
  • UMLS: C1860168
  • MeSH: C536020
  • GARD: 2988  463
  • MedDRA: -

  A summary on this disease is available in Español (2013) Français (2013) Nederlands (2013)

Detailed information

General public

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.