ORPHA:2143
Donnai-Barrow syndrome
Synonyms: DBS/FOAR syndrome · Diaphragmatic hernia-exomphalos-hypertelorism syndrome · Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome · Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome · FOAR syndrome · Facio-oculo-acoustico-renal syndrome · Holmes-Schepens syndrome · Syndrome of ocular and facial anomalies, telecanthus and deafness · Syndrome of ocular and facial anomalies, telecanthus and hearing loss
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A multiple congenital malformation syndrome characterized by typical facial dysmorphism, myopia and other ocular findings, hearing loss, agenesis of the corpus callosum, low-molecular-weight proteinuria, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Donnai-Barrow syndrome | DBS/FOAR syndrome · Diaphragmatic hernia-exomphalos-hypertelorism syndrome · Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome · Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome · FOAR syndrome · Facio-oculo-acoustico-renal syndrome · Holmes-Schepens syndrome · Syndrome of ocular and facial anomalies, telecanthus and deafness · Syndrome of ocular and facial anomalies, telecanthus and hearing loss |
| fr | Syndrome de Donnai-Barrow | Syndrome DBS/FOAR · Syndrome FOAR · Syndrome de Holmes-Schepens · Syndrome de hernie diaphragmatique-hypertélorisme-myopie-surdité · Syndrome de hernie diaphragmatique-omphalocèle-hypertélorisme · Syndrome des anomalies oculaires et faciales-télécanthus-surdité · Syndrome facio-oculo-acoustico-rénal |
| de | Donnai-Barrow-Syndrom | DBS/FOAR-Syndrom · FOAR-Syndrom · Fazio-okulo-akustiko-renales Syndrom · Holmes-Schepens-Syndrom · Syndrom der Augen- und Gesichtanomalien mit Telekanthus und Schwerhörigkeit · Zwerchfellhernie-Exomphalos-Hypertelorismus-Syndrom · Zwerchfellhernie-Hypertelorismus-Myopie-Schwerhörigkeit-Syndrom |
| es | Síndrome de Donnai-Barrow | Síndrome DBS/FOAR · Síndrome FOAR · Síndrome de Holmes-Schepens · Síndrome de anomalias oculares y faciales, telecanto e hipoacusia · Síndrome de anomalias oculares y faciales, telecanto y sordera · Síndrome de hernia diafragmática-hipertelorismo-miopía-hipoacusia · Síndrome de hernia diafragmática-hipertelorismo-miopía-sordera · Síndrome de hernia diafragmática-onfalocele-hipertelorismo · Síndrome facio-oculo-acústico-renal |
| it | Sindrome di Donnai-Barrow | Sindrome DBS/FOAR · Sindrome FOAR · Sindrome anomalia oculari e facciali-telecanto-sordità · Sindrome di Holmes-Schepens · Sindrome ernia diaframmatica-esonfalo-ipertelorismo · Sindrome ernia diaframmatica-ipertelorismo-miopia-sordità · Sindrome facio-oculo-acustico-renale |
| nl | Syndroom van Donnai-Barrow | DBS/FOAR-syndroom · FOAR-syndroom · Facio-oculo-acoustico-renaal syndroom · Hernia diaphragmatica - exomphalos - hypertelorisme-syndroom · Hernia diaphragmatica - hypertelorisme - myopie - doofheid-syndroom · Middenrifbreuk - navelbreuk - hypertelorisme-syndroom · Syndroom van Holmes-Schepens · Syndroom van oculaire en faciale anomalieën, telecanthus en doofheid |
| pt | Síndrome Donnai-Barrow | Síndrome de hérnia diafragmática-onfalocelo-agenesia do corpo caloso |
| pl | Zespół Donnai i Barrowa | Zespół DBS/FOAR · Zespół FOAR · Zespół Holmesa i Schepensa · Zespół przepuklina przepony-przepuklina pępowinowa-hiperteloryzm · Zespół przepuklina przpony-hiperteloryzm-miopia-głuchota · Zespół twarzowo-oczno-uszno-nerkowy · Zespół z wadami oczu i twarzy, telekantusem i głuchotą |
| cs | Donnaiové-Barrowové syndrom | DBS/FOAR syndrom · FOAR syndrom · Faciookuloakustikorenální syndrom · Syndrom okulárních a faciálních anomálií, telekantu a hluchoty · Syndrom zahrnující brániční kýlu, exomfalos a hypertelorismus · Syndrom zahrnující brániční kýlu, hypertelorismus, myopii a hluchotu · Holmesův-Schepensův syndrom · Donnai-Barrowové syndrom · Holmes-Schepensův syndrom |
| uk | Синдром Доннаї-Берроу | Синдром DBS/FOAR · Синдром діафрагмальної грижі-екзомфало-гіпертелоризму · Синдром діафрагмальної грижи-гіпертелоризму-міопії-глухоти · Синдром діафрагмальної грижи - гіпертелоризму - короткозорості - втрати слуху · Лицьово-окуло-акустично-нирковий синдром · Синдром FOAR · Синдром Холмса-Шепенса · Синдром очних та лицевих аномалій, телекант і глухота · Синдром очних та лицевих аномалій, телекант та втрата слуху |
| zh | Donnai-Barrow综合征 | 眼面异常综合征，内眦距过宽和听力损失综合征 |
| tr | Donnai-Barrow sendromu | FOAR sendromu · DBS / FOAR sendromu · Holmes-Schepens sendromu · Fasiyo-okülo-akustik-renal sendrom · Diyafragmatik herni-ekzomfalos-hipertelorizm sendromu · Diyafragmatik herni-hipertelorizm-miyopi-sağırlık sendromu · Diyafragmatik herni-hipertelorizm-miyopi-işitme kaybı sendromu · Oküler ve fasiyal anomaliler, telekantus ve sağırlık sendromu · Oküler ve fasiyal anomalileri, telekantus ve işitme kaybı sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 222448 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0009104 | E | validated | |
| MeSH | C536390 | E | validated | |
| UMLS | C1857277 | E | validated | |
| GARD | 1899 | 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 (4):
- 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 - ORPHA:108979Syndromic diaphragmatic or abdominal wall malformation
rare developmental anomalies during embryogenesis; rare abdominal surgical diseases - ORPHA:180779Syndromic diaphragmatic or thoracic malformation
rare surgical thoracic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LRP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:6694 | ENSG00000081479 | 600073 | 2q31.1 | LDL receptor related protein 2 | 20301732[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| 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
28 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0001263 | Global developmental delay | |
| HP:0000316 | Hypertelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0000545 | Myopia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000093 | Proteinuria | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0003196 | Short nose | |
| HP:0000260 | Wide anterior fontanel | |
| HP:0000349 | Widow's peak | |
| Frequent (79-30%) | ||
| HP:0000337 | Broad forehead | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0000256 | Macrocephaly | |
| HP:0001539 | Omphalocele | |
| HP:0000529 | Progressive visual loss | |
| HP:0000520 | Proptosis | |
| HP:0000541 | Retinal detachment | |
| HP:0001537 | Umbilical hernia | |
| Occasional (29-5%) | ||
| HP:0000130 | Abnormality of the uterus | |
| HP:0000813 | Bicornuate uterus | |
| HP:0002566 | Intestinal malrotation | |
| HP:0000612 | Iris coloboma | |
| HP:0000556 | Retinal dystrophy | |
| HP:0001250 | Seizure | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2143
- This record as JSON: /data/d/2143.json