Grant syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 33
OrphanetNr: 2097
OMIM Id: 138930
ICD-10: Q87.5
UMLs: C1841835
MeSH: C537293
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

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

Symptom Information: Sort by abundance 

1
 (HPO:0000689) Dental malocclusion Frequent [Orphanet] 114 / 7739
2
 (HPO:0004331) Decreased skull ossification Very frequent [Orphanet] 31 / 7739
3
 (HPO:0100729) Large face Frequent [Orphanet] 19 / 7739
4
 (HPO:0000347) Micrognathia 426 / 7739
5
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
6
 (HPO:0011331) Hemifacial atrophy Frequent [Orphanet] 79 / 7739
7
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
8
 (HPO:0000248) Brachycephaly Frequent [Orphanet] 222 / 7739
9
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 381 / 7739
10
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
11
 (HPO:0002645) Wormian bones Very frequent [Orphanet] 65 / 7739
12
 (HPO:0012368) Flat face Frequent [Orphanet] 106 / 7739
13
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
14
 (HPO:0000592) Blue sclerae Very frequent [Orphanet] 85 / 7739
15
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
16
 (HPO:0000912) Sprengel anomaly Frequent [Orphanet] 51 / 7739
17
 (HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
18
 (HPO:0001373) Joint dislocation Very frequent [Orphanet] 59 / 7739
19
 (HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
20
 (HPO:0000774) Narrow chest Frequent [Orphanet] 167 / 7739
21
 (HPO:0002982) Tibial bowing 36 / 7739
22
 (HPO:0003103) Abnormal cortical bone morphology Very frequent [Orphanet] 38 / 7739
23
 (HPO:0000772) Abnormality of the ribs Frequent [Orphanet] 146 / 7739
24
 (HPO:0200021) Down-sloping shoulders 18 / 7739
25
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
26
 (HPO:0200040) Epidermoid cyst Frequent [Orphanet] 35 / 7739
27
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
28
 (OMIM) Persistent wormian bones 1 / 7739
29
 (OMIM) Upward bowed clavicles 1 / 7739
30
 (OMIM) Femoral and tibial bowing 1 / 7739
31
 (OMIM) Campomelia 1 / 7739
32
 (OMIM) Shallow glenoid fossa 2 / 7739
33
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: