Low birth weight - dwarfism - dysgammaglobulinemia

General Information (adopted from Orphanet):

Synonyms, Signs: Christian-Rosenberg syndrome
Number of Symptoms 20
OrphanetNr: 2621
OMIM Id:
ICD-10: D82.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Other immunodeficiency syndrome with predominantly antibody defects
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
(HPO:0003196) Short nose Frequent [Orphanet] 264 / 7739
2
(HPO:0000684) Delayed eruption of teeth Frequent [Orphanet] 117 / 7739
3
(HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
4
(HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
5
(HPO:0001238) Slender finger Very frequent [Orphanet] 23 / 7739
6
(HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
7
(HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
8
(HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
9
(HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
10
(HPO:0000954) Single transverse palmar crease Very frequent [Orphanet] 162 / 7739
11
(HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
12
(HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
13
(HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
14
(HPO:0000965) Cutis marmorata Frequent [Orphanet] 46 / 7739
15
(HPO:0007477) Abnormal dermatoglyphics Very frequent [Orphanet] 72 / 7739
16
(HPO:0010701) Abnormal immunoglobulin level Very frequent [Orphanet] 49 / 7739
17
(HPO:0002205) Recurrent respiratory infections Very frequent [Orphanet] 254 / 7739
18
(HPO:0010978) Abnormality of immune system physiology Very frequent [Orphanet] 148 / 7739
19
(HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
20
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: