Welcome to PhenoDis

Short-limb skeletal dysplasia with severe combined immunodeficiency

General Information (adopted from Orphanet):

Synonyms, Signs:	SLSD WITH SCID ACHONDROPLASIA, SO-CALLED, AND SEVERE COMBINED IMMUNODEFICIENCY Achondroplasia - severe combined immunodeficiency Immunodeficiency - short limb dwarfism Short-limb skeletal dysplasia with SCID Achondroplasia - SCID Achondroplasia - Swiss-type agammaglobulinemia
Number of Symptoms	29
OrphanetNr:	935
OMIM Id:	200900
ICD-10:	D82.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	No data available.
Inheritance:	Autosomal recessive inheritance [Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases:

T-B- severe combined immunodeficiency
-Rare genetic disease
-Rare immune disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0002251)	Aganglionic megacolon	Occasional [Orphanet]	78 / 7739
2	(HPO:0005871)	Metaphyseal chondrodysplasia		10 / 7739
3	(HPO:0000765)	Abnormality of the thorax		64 / 7739
4	(HPO:0003085)	Long fibula		5 / 7739
5	(HPO:0000767)	Pectus excavatum	Occasional [Orphanet]	244 / 7739
6	(HPO:0002991)	Abnormality of the fibula	Occasional [Orphanet]	49 / 7739
7	(HPO:0000944)	Abnormality of the metaphyses	Very frequent [Orphanet]	141 / 7739
8	(HPO:0004349)	Reduced bone mineral density	Frequent [Orphanet]	165 / 7739
9	(HPO:0004299)	Hernia of the abdominal wall	Occasional [Orphanet]	176 / 7739
10	(HPO:0012090)	Abnormality of pancreas morphology	Occasional [Orphanet]	31 / 7739
11	(HPO:0002024)	Malabsorption	Occasional [Orphanet]	142 / 7739
12	(HPO:0004322)	Short stature	Frequent [Orphanet]	1232 / 7739
13	(HPO:0001022)	Albinism	Occasional [Orphanet]	43 / 7739
14	(HPO:0002213)	Fine hair	Frequent [Orphanet]	77 / 7739
15	(HPO:0004432)	Agammaglobulinemia		17 / 7739
16	(HPO:0001888)	Lymphopenia	Very frequent [Orphanet]	43 / 7739
17	(HPO:0001903)	Anemia	Occasional [Orphanet]	289 / 7739
18	(HPO:0010701)	Abnormal immunoglobulin level	Frequent [Orphanet]	49 / 7739
19	(HPO:0002205)	Recurrent respiratory infections	Very frequent [Orphanet]	254 / 7739
20	(HPO:0000778)	Hypoplasia of the thymus		13 / 7739
21	(HPO:0005352)	Severe T-cell immunodeficiency	Very frequent [Orphanet]	20 / 7739
22	(HPO:0010978)	Abnormality of immune system physiology	Very frequent [Orphanet]	148 / 7739
23	(HPO:0004430)	Severe combined immunodeficiency		16 / 7739
24	(HPO:0000777)	Abnormality of the thymus		9 / 7739
25	(OMIM)	Harrison grooves		1 / 7739
26	(OMIM)	Short-limb dysplasia		1 / 7739
27	(HPO:0000007)	Autosomal recessive inheritance		2538 / 7739
28	(HPO:0003819)	Death in childhood		42 / 7739
29	(HPO:0012758)	Neurodevelopmental delay	Occasional [Orphanet]	949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

McKusick and Cross (1966) described an Amish infant with 'Swiss agammaglobulinemia' (severe combined immunodeficiency) and a form of skeletal dysplasia similar to achondroplasia who died in early infancy.

Davis (1967) stated that at least 5 such ... McKusick and Cross (1966) described an Amish infant with 'Swiss agammaglobulinemia' (severe combined immunodeficiency) and a form of skeletal dysplasia similar to achondroplasia who died in early infancy. Davis (1967) stated that at least 5 such cases were known to him. The case he personally described was a female infant whose parents were Jewish but not known to be related. The child died at 2 months of age. Gatti et al. (1969) described affected brother and sister who also had ectodermal dysplasia. They suggested that other cases had been reported by McKusick and Cross (1966), Davis (1966), Fulginiti et al. (1967), and Alexander and Dunbar (1968). Say et al. (1972) reported 2 affected Turkish sibs. The skeletal dysplasia in these cases may be best classified as a metaphyseal chondrodysplasia. McKusick (1972) described a family studied by Mathies (1972) in which the skeletal changes were typical of cartilage-hair hypoplasia (250250) including 'metaphyseal dysostosis' by x-ray, excessively long fibulas, Harrison grooves, etc. The hair was light in color and required cutting less often than one would expect but its caliber appeared normal. All 3 children were affected. The oldest had secondary vaccinia after routine vaccination and was reported by Fulginiti et al. (1968)--see their case M.N., p. 135. Main laboratory findings are lymphopenia, agammaglobulinemia, and, by x-ray, thymic hypoplasia. These findings and the clinical course are similar to those in severe combined immunodeficiency (see 601457). McKusick (1972) noted that some patients with severe combined immunodeficiency and short-limb skeletal dysplasia had been found to have deficiency of adenosine deaminase (see 102700). MacDermot et al. (1991) reported 2 unrelated patients with severe combined immunodeficiency and early lethal short-limb skeletal dysplasia. These 2 patients did not have determinations of adenosine deaminase, nor did the cases of severe skeletal dysplasia in association with SCID previously reported. MacDermot et al. (1991) noted that the metaphyseal abnormalities have been mild in cases of SCID with ADA deficiency.

Symptoms & Signs

	Field	Query
	Disease
	Symptom