Kaler-Garrity-Stern syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Osteopenia - intellectual deficit - sparse hair
Number of Symptoms 23
OrphanetNr: 2324
OMIM Id: 259690
ICD-10:
UMLs: C1850140
MeSH: C537706
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: Primary bone dysplasia with decreased bone density
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
2
(HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
3
(HPO:0000303) Mandibular prognathia Frequent [Orphanet] 179 / 7739
4
(HPO:0010650) Hypoplasia of the premaxilla Very frequent [Orphanet] 39 / 7739
5
(HPO:0000271) Abnormality of the face 108 / 7739
6
(HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
7
(HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
8
(HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
9
(HPO:0001249) Intellectual disability 1089 / 7739
10
(HPO:0000938) Osteopenia 138 / 7739
11
(HPO:0004349) Reduced bone mineral density Very frequent [Orphanet] 165 / 7739
12
(HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
13
(HPO:0001388) Joint laxity 117 / 7739
14
(HPO:0011001) Increased bone mineral density Very frequent [Orphanet] 78 / 7739
15
(HPO:0008070) Sparse hair 94 / 7739
16
(HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
17
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
18
(HPO:0001252) Muscular hypotonia 990 / 7739
19
(HPO:0001324) Muscle weakness 859 / 7739
20
(HPO:0010547) Muscle flaccidity 466 / 7739
21
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
22
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
23
(OMIM) Minor facial abnormalities 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: