Skeletal dysplasia-epilepsy-short stature syndrome
Synonyms: Gurrieri-Sammito-Bellussi syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
A rare, genetic dysostosis malformation syndrome characterized by skeletal dysplasia (rabbit ear-shaped iliac alae, delayed bone age, abnormalities of the vertebral bodies and schisis of the vertebral arches), seizures, short stature, cerebral atrophy and moderate to severe intellectual disability. Additional variable manifestations include corneal and retinal abnormalities, cataract, prognathism, dental malocclusion, brachydactyly, clinodactyly, slight generalized hypotonia and hyper extensible joints.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Skeletal dysplasia-epilepsy-short stature syndrome | Gurrieri-Sammito-Bellussi syndrome |
| fr | Syndrome de dysplasie squelettique-épilepsie-petite taille | Syndrome de Gurrieri-Sammito-Bellussi |
| de | Skelettdysplasie-Epilepsie-Kleinwuchs-Syndrom | Gurrieri-Sammito-Bellussi-Syndrom |
| es | Síndrome de displasia esquelética-epilepsia-talla baja | Síndrome de Gurrieri-Sammito-Bellussi |
| it | Sindrome displasia scheletrica-epilessia-bassa statura | Sindrome di Gurrieri-Sammito-Bellussi |
| nl | Skeletdysplasie - epilepsie - kleine gestalte-syndroom | Syndroom van Gurrieri-Sammito-Bellussi |
| pt | Síndrome de displasia esquelética-epilepsia-baixa estatura | Síndrome Gurrieri-Sammito-Bellussi |
| pl | Dysplazja szkieletowa- padaczka - niski wzrost | Zespół Gurrieri, Sammito i Bellussi |
| cs | Syndrom zahrnující kosterní dysplázii, epilepsii a nízký vzrůst | Gurrieriho-Sammitův-Bellussiho syndrom · Gurrieri-Sammito-Bellussiho syndrom |
| uk | Синдром скелетної дисплазії-епілепсії-низького зросту | Синдром Гурєрі-Самміто-Беллуссі |
| zh | 骨骼发育不良-癫痫-身材矮小综合征 | Gurrieri-Sammito-Bellussi综合征 |
| tr | İskelet displazisi-epilepsi-kısa boy sendromu | Gurrieri-Sammito-Bellussi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601187 | E | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| ICD-11 | LD24.8Y | NTBT | index | validated |
| MONDO | 0011011 | E | validated | |
| MeSH | C537625 | E | validated | |
| UMLS | C0796046 | E | validated | |
| GARD | 350 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:498454Dysostosis with brachydactyly with extraskeletal manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 9916849[PMID]_1488978[PMID]_8882779[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_9916849[PMID]_1488978[PMID]_8882779[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
15 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0001156 | Brachydactyly | |
| HP:0000689 | Dental malocclusion | |
| HP:0002353 | EEG abnormality | |
| HP:0001385 | Hip dysplasia | |
| HP:0002866 | Hypoplastic iliac wing | |
| HP:0003212 | Increased circulating IgE concentration | |
| HP:0001249 | Intellectual disability | |
| HP:0002808 | Kyphosis | |
| HP:0000303 | Mandibular prognathia | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0004322 | Short stature | |
| HP:0002652 | Skeletal dysplasia | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1858
- This record as JSON: /data/d/1858.json