ORPHA:3163
SHORT syndrome
Synonyms: Lipodystrophy-Rieger anomaly-diabetes syndrome · Rieger anomaly-partial lipodystrophy syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare disorder characterized by multiple congenital anomalies. The name is a mneumonic for the common features observed in SHORT syndrome that include; short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay. Other common manifestations of SHORT syndrome are mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and a recognizable facial gestalt.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | SHORT syndrome | Lipodystrophy-Rieger anomaly-diabetes syndrome · Rieger anomaly-partial lipodystrophy syndrome |
| fr | Syndrome SHORT | Syndrome d'anomalie de Rieger-lipodystrophie partielle · Syndrome de lipodystrophie-anomalie de Rieger-diabète |
| de | SHORT-Syndrom | Lipodystrophie-Rieger-Anomalie-Diabetes-Syndrom · Rieger-Anomalie-partielle Lipodystrophy-Syndrom |
| es | Síndrome SHORT | Síndrome de anomalía de Rieger-lipodistrofia parcial · Síndrome de lipodistrofia-anomalía de Rieger-diabetes |
| it | Sindrome SHORT | Lipodistrofia - anomalia di Rieger - diabete · Sindrome di Aarskog-Ose-Pande |
| nl | SHORT-syndroom | Lipodystrofie - Rieger-anomalie - diabetes-syndroom · Rieger-anomalie - partiële lipodystrofie-syndroom |
| pt | Síndrome SHORT | Síndrome de anomalia de Reiger-lipodistrofia parcial · Síndrome de lipodistrofia-anomalia de Reiger-diabetes |
| pl | Zespół SHORT | Anomalia Riegera - częściowa lipodystrofia · Lipodystrofia - anomalia Riegera - cukrzyca · Zespół Aarskoga,Osego i Pande |
| cs | SHORT syndrom | Syndrom zahrnující lipodystrofii, Riegerovu anomálii a diabetes · Syndrom zahrnující Riegerovu anomálii a parciální lipodystrofii · Aarskogův-Oseův-Pandeové syndrom · Aarskog-Ose-Pandeové syndrom |
| uk | Синдром SHORT | Синдром ліподистрофії - аномалії Рігера - цукрового діабету · Синдром аномалії Рігера - часткова ліподистрофія |
| zh | SHORT综合征 | 脂肪营养不良-Rieger异常-糖尿病综合征 |
| tr | SHORT sendromu | Rieger anomalisi-kısmi lipodistrofi sendromu · Lipodistrofi-Rieger anomalisi-diyabet sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 269880 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD27.6Z | NTBT | index | validated |
| MONDO | 0010026 | E | validated | |
| MeSH | C537327 | E | validated | |
| UMLS | C0878684 | E | validated | |
| GARD | 7633 | E | validated | |
| MedDRA | 10090250 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (13):
- ORPHA:519276Anterior segment developmental anomaly with extraocular manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:98305Genetic lipodystrophy
rare genetic diseases; rare skin diseases; rare endocrine diseases - ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:363245Genetic progeroid syndrome
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:139033Progeroid syndrome
rare developmental anomalies during embryogenesis - ORPHA:98638Rare disease with glaucoma as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:519286Rare disorder of the pupil
rare ophthalmic disorders - ORPHA:522568Rare genetic disorder of the pupil
rare genetic diseases - ORPHA:181368Rare insulin-resistance syndrome
rare genetic diseases; rare endocrine diseases - ORPHA:98622Syndromic hyperopia
rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PIK3R1 | Disease-causing germline mutation(s) in | Assessed | HGNC:8979 | ENSG00000145675 | 171833 | 5q13.1 | phosphoinositide-3-kinase regulatory subunit 1 | 23810378[PMID]_23810379[PMID]_23810382[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 32 cases | Worldwide | Case(s) | Validated | 26497935[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26497935[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.
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HPO phenotypes
37 annotations · validated 2017-09-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000490 | Deeply set eye | |
| HP:0007676 | Hypoplasia of the iris | |
| HP:0000023 | Inguinal hernia | |
| HP:0001382 | Joint hypermobility | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0003510 | Severe short stature | |
| Frequent (79-30%) | ||
| HP:0000615 | Abnormal pupil morphology | |
| HP:0000682 | Abnormality of dental enamel | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000271 | Abnormality of the face | |
| HP:0001596 | Alopecia | |
| HP:0000819 | Diabetes mellitus | |
| HP:0007392 | Excessive wrinkled skin | |
| HP:0000501 | Glaucoma | |
| HP:0000855 | Insulin resistance | |
| HP:0009125 | Lipodystrophy | |
| HP:0000485 | Megalocornea | |
| HP:0000691 | Microdontia | |
| HP:0011800 | Midface retrusion | |
| HP:0004396 | Poor appetite | |
| HP:0008070 | Sparse hair | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0000593 | Abnormal anterior chamber morphology | |
| HP:0010668 | Abnormal zygomatic bone morphology | |
| HP:0000277 | Abnormality of the mandible | |
| HP:0001156 | Brachydactyly | |
| HP:0007957 | Corneal opacity | |
| HP:0000316 | Hypertelorism | |
| HP:0000272 | Malar flattening | |
| HP:0000627 | Posterior embryotoxon | |
| HP:0011220 | Prominent forehead | |
| HP:0000336 | Prominent supraorbital ridges | |
| HP:0004279 | Short palm | |
| HP:0000506 | Telecanthus | |
| HP:0000325 | Triangular face | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 6 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3163
- This record as JSON: /data/d/3163.json