ORPHA:2962
De Barsy syndrome
Synonyms: Cutis laxa-corneal clouding-intellectual disability syndrome · Progeroid syndrome, De Barsy type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | De Barsy syndrome | Cutis laxa-corneal clouding-intellectual disability syndrome · Progeroid syndrome, De Barsy type |
| fr | Syndrome de De Barsy | Syndrome de cutis laxa-opacité cornéenne-déficience intellectuelle · Syndrome progéroïde type De Barsy |
| de | De Barsy-Syndrom | Cutis laxa - Hornhauttrübung - Intelligenzminderung · Progerie-Syndrom vom Typ de Barsy |
| es | Síndrome de De Barsy | Síndrome de cutis laxa-opacidad corneal-discapacidad intelectual · Síndrome progeroide tipo De Barsy |
| it | Sindrome di De Barsy | Cutis laxa - opacità corneale - ritardo mentale · Sindrome progeroide, tipo De Barsy · Sindrome Cutis laxa-opacità corneale-disabilità intellettiva |
| nl | Syndroom van De Barsy | Cutis laxa - hoornvliestroebeling - intellectuele achterstand-syndroom · Progeroïd syndroom, De Barsy-type |
| pt | Síndrome De Barsy | Síndrome de cutis laxa-opacidade da córnea-perturbação do desenvolvimento intelectual · Síndrome progeróide, tipo De Barsy |
| pl | Zespół de Barsy'ego | Skóra wiotka - zamglenie rogówki - niepełnosprawność intelektualna · Zespół progerii typu De Barsy |
| cs | De Barsyho syndrom | Syndrom zahrnující cutis laxa, zakalení rohovky a mentální retardaci · Progeroidní syndrom, De Barsyho typ |
| uk | Синдром де Барсі | Синдром Cutis laxa-помутніння рогівки-інтелектуальної недостатності · Прогероїдний синдром, тип Де Барсі |
| zh | De Barsy综合征 | 皮肤松弛-角膜云翳-智力障碍综合征 |
| tr | De Barsy sendromu | Progeroid sendromu, De Barsy tipi · Kutis laksa-korneal bulutlanma-zihinsel yetersizlik sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 219150 | BTNT | validated | |
| OMIM | 614438 | BTNT | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD28.2 | NTBT | index | validated |
| MONDO | 0017569 | E | validated | |
| MeSH | C535990 | E | validated | |
| UMLS | C0268354 | E | validated | |
| GARD | 49 | E | validated | |
| MedDRA | 10083947 | 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 (9):
- ORPHA:209Cutis laxa
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare surgical thoracic diseases; rare skin diseases - ORPHA:289866Disorder of proline metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:98644Metabolic disease with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:79389Premature aging
rare genetic diseases; rare skin diseases - ORPHA:207018Rare hereditary metabolic disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:98628Syndromic corneal dystrophy
rare genetic diseases; rare ophthalmic disorders
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Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| ALDH18A1 | ORPHA:35664ALDH18A1-related De Barsy syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:9722 | ENSG00000059573 | 138250 | 10q24.1 | aldehyde dehydrogenase 18 family member A1 | 21739576[PMID] |
| PYCR1 | ORPHA:293633PYCR1-related De Barsy syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:9721 | ENSG00000183010 | 179035 | 17q25.3 | pyrroline-5-carboxylate reductase 1 | 22052856[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 40 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
66 annotations · validated 2017-09-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001181 | Adducted thumb | |
| HP:0002305 | Athetosis | |
| HP:0000248 | Brachycephaly | |
| HP:0001374 | Congenital hip dislocation | |
| HP:0007957 | Corneal opacity | |
| HP:0002812 | Coxa vara | |
| HP:0000973 | Cutis laxa | |
| HP:0001558 | Decreased fetal movement | |
| HP:0003199 | Decreased muscle mass | |
| HP:0000490 | Deeply set eye | |
| HP:0001476 | Delayed closure of the anterior fontanelle | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000750 | Delayed speech and language development | |
| HP:0010648 | Dermal translucency | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000286 | Epicanthus | |
| HP:0001508 | Failure to thrive | |
| HP:0008947 | Floppy infant | |
| HP:0025167 | Fragmented elastic fibers in the dermis | |
| HP:0002761 | Generalized joint hypermobility | |
| HP:0001263 | Global developmental delay | |
| HP:0011003 | High myopia | |
| HP:0000218 | High palate | |
| HP:0001611 | Hypernasal speech | |
| HP:0001347 | Hyperreflexia | |
| HP:0000316 | Hypertelorism | |
| HP:0000023 | Inguinal hernia | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0009748 | Large earlobe | |
| HP:0009125 | Lipodystrophy | |
| HP:0000369 | Low-set ears | |
| HP:0000160 | Narrow mouth | |
| HP:0000938 | Osteopenia | |
| HP:0000767 | Pectus excavatum | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0001788 | Premature rupture of membranes | |
| HP:0005328 | Progeroid facial appearance | |
| HP:0000253 | Progressive microcephaly | |
| HP:0011220 | Prominent forehead | |
| HP:0005272 | Prominent nasolabial fold | |
| HP:0007457 | Prominent veins on trunk | |
| HP:0005425 | Recurrent sinopulmonary infections | |
| HP:0004322 | Short stature | |
| HP:0200141 | Small, conical teeth | |
| HP:0008070 | Sparse hair | |
| HP:0001884 | Talipes calcaneovalgus | |
| HP:0001762 | Talipes equinovarus | |
| HP:0000963 | Thin skin | |
| HP:0001537 | Umbilical hernia | |
| HP:0002645 | Wormian bones | |
| Frequent (79-30%) | ||
| HP:0001273 | Abnormal corpus callosum morphology | |
| HP:0030604 | Abnormal fundus fluorescein angiography | |
| HP:0000592 | Blue sclerae | |
| HP:0000518 | Cataract | |
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0007392 | Excessive wrinkled skin | |
| HP:0002073 | Progressive cerebellar ataxia | |
| HP:0001629 | Ventricular septal defect | |
| Occasional (29-5%) | ||
| HP:0008619 | Bilateral sensorineural hearing impairment | |
| HP:0000028 | Cryptorchidism | |
| HP:0012304 | Hypoplastic aortic arch | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0005301 | Persistent left superior vena cava | |
| Excluded (0%) | ||
| HP:0002097 | Emphysema | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 19401719[PMID]_18388779[PMID]_21739576[PMID]_24913064[PMID]_4302249[PMID]_16780467[PMID]_9916839[PMID]_11424136[PMID]_3321993[PMID]_9916839[PMID]_8500259[PMID]_3321993[PMID]_4765201[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2962
- This record as JSON: /data/d/2962.json