Skeletal dysplasia - epilepsy - short stature

General Information (adopted from Orphanet):

Synonyms, Signs: Gurrieri-Sammito-Bellussi syndrome
Number of Symptoms 21
OrphanetNr: 1858
OMIM Id: 601187
ICD-10: Q87.5
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: Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Syndrome with brachydactyly
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000303) Mandibular prognathia Very frequent [Orphanet] 179 / 7739
2
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
3
 (HPO:0001249) Intellectual disability 1089 / 7739
4
 (HPO:0002353) EEG abnormality Very frequent [Orphanet] 188 / 7739
5
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
6
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
7
 (HPO:0001167) Abnormality of finger Very frequent [Orphanet] 29 / 7739
8
 (HPO:0003274) Hypoplastic acetabulae 7 / 7739
9
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
10
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
11
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
12
 (HPO:0002866) Hypoplastic iliac wing 34 / 7739
13
 (HPO:0002652) Skeletal dysplasia 113 / 7739
14
 (HPO:0009882) Short distal phalanx of finger Very frequent [Orphanet] 125 / 7739
15
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
16
 (HPO:0002808) Kyphosis Very frequent [Orphanet] 289 / 7739
17
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
18
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
19
 (HPO:0005638) Decreased anterioposterior diameter of lumbar vertebral bodies 1 / 7739
20
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
21
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Gurrieri et al. (1992) reported the cases of 4 Italian sibs with a previously undescribed constellation of manifestations: moderate to severe mental retardation, seizures, short stature, and skeletal abnormalities.

Battaglia et al. (1996) described a male ...