Short-limb skeletal dysplasia with severe combined immunodeficiency

MedGen UID:: 348040
•Concept ID:: C1860168
•: Disease or Syndrome

Synonyms:	Achondroplasia and severe combined immunodeficiency; Achondroplasia so-called and severe combined immunodeficiency
SNOMED CT:	Immunodeficiency, short limb dwarfism syndrome (789777007); Achondroplasia-Swiss type agammaglobulinemia syndrome (789777007); Short-limb skeletal dysplasia with severe combined immunodeficiency (789777007); Achondroplasia, severe combined immunodeficiency syndrome (789777007)
Modes of inheritance:	Not genetically inherited MedGen UID: 988794 •Concept ID: CN307044 • Finding Source: Orphanet clinical entity without genetic inheritance. See: This record Not genetically inherited (Orphanet)

Monarch Initiative:	MONDO:0008704
OMIM®:	200900
Orphanet:	ORPHA935

Definition

An extremely rare type of severe combined immunodeficiency syndrome (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. [from SNOMEDCT_US]

Clinical features

From HPO

Metaphyseal chondrodysplasia

MedGen UID:: 120528
•Concept ID:: C0265290
•: Congenital Abnormality

An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae.

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Abnormal thorax morphology

MedGen UID:: 867424
•Concept ID:: C4021797
•: Anatomical Abnormality

Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).

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Agammaglobulinemia

MedGen UID:: 168
•Concept ID:: C0001768
•: Disease or Syndrome

A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured.

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Lymphopenia

MedGen UID:: 7418
•Concept ID:: C0024312
•: Disease or Syndrome

A reduced number of lymphocytes in the blood.

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Severe combined immunodeficiency disease

MedGen UID:: 88328
•Concept ID:: C0085110
•: Disease or Syndrome

A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems.

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Hypoplasia of the thymus

MedGen UID:: 146347
•Concept ID:: C0685891
•: Congenital Abnormality

Underdevelopment of the thymus.

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Abnormality of the immune system
Abnormality of the musculoskeletal system
- Abnormal thorax morphology
- Metaphyseal chondrodysplasia

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVShort-limb skeletal dysplasia with severe combined immunodeficiency

T-B- severe combined immunodeficiency
- Short-limb skeletal dysplasia with severe combined immunodeficiency

Professional guidelines