ORPHA:1051
Ramos-Arroyo syndrome
Synonyms: Corneal anesthesia-deafness-intellectual disability syndrome · Corneal anesthesia-hearing loss-intellectual disability syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature, and intellectual disability.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ramos-Arroyo syndrome | Corneal anesthesia-deafness-intellectual disability syndrome · Corneal anesthesia-hearing loss-intellectual disability syndrome |
| fr | Syndrome de Ramos-Arroyo | Syndrome d'anesthésie cornéenne-surdité-déficience intellectuelle |
| de | Ramos-Arroyo-Syndrom | Korneale Hypästhesie-Schwerhörigkeit-Intelligenzminderung-Syndrom |
| es | Síndrome de Ramos-Arroyo | Síndrome de anestesia corneal-hipoacusia-discapacidad intelectual · Síndrome de anestesia corneal-sordera-discapacidad intelectual |
| it | Sindrome di Ramos-Arroyo | Sindrome anestesia corneale-sordità-disabilità intellettiva · Sindrome anestesia corneale-perdita delludito-disabilità intellettiva · Anestesia corneale - sordità - deficit cognitivo |
| nl | Syndroom van Ramos-Arroyo | Corneale anesthesie - doofheid - intellectuele achterstand-syndroom · Corneale anesthesie - gehoorverlies - intellectuele achterstand-syndroom |
| pt | Síndrome Ramos-Arroyo | Síndrome de anestesia da córnea-perda auditiva-perturbação do desenvolvimento intelectual · Síndrome de anestesia da córnea-surdez-perturbação do desenvolvimento intelectual |
| pl | Zespół Ramosa i Arroyo | Zespół zaburzeń czucia rogówki, głuchoty i niepełnosprawności intelektualnej |
| cs | Ramos-Arroyové syndrom | Syndrom zahrnující korneální anestezii, hluchotu a mentální retardaci |
| uk | Синдром Рамоса-Арройо | Синдром анестезії рогівки - глухоти - інтелектуальної недостатності · Синдром анестезії рогівки - втрати слуху - інтелектуальної недостатності |
| zh | Ramos-Arroyo综合征 | 角膜感觉异常-听力损失-智力障碍-综合征 |
| tr | Ramos-Arroyo sendromu | Kornea anestezi-sağırlık-zihinsel yetersizlik sendromu · Kornea anestezi-işitme kaybı-zihinsel yetersizlik sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 122430 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0007382 | E | validated | |
| MeSH | C535286 | E | validated | |
| UMLS | C2930866 | E | validated | |
| GARD | 4636 | 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:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare ophthalmic disorders - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 21910235[PMID] | |
| 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
46 annotations · validated 2019-02-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000309 | Abnormal midface morphology | |
| HP:0012155 | Decreased corneal sensation | |
| Frequent (79-30%) | ||
| HP:0012332 | Abnormal autonomic nervous system physiology | |
| HP:0007980 | Absent retinal pigment epithelium | |
| HP:0002251 | Aganglionic megacolon | |
| HP:0008619 | Bilateral sensorineural hearing impairment | |
| HP:0000283 | Broad face | |
| HP:0030491 | Choriocapillaris atrophy | |
| HP:0011120 | Concave nasal ridge | |
| HP:0004325 | Decreased body weight | |
| HP:0002194 | Delayed gross motor development | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002007 | Frontal bossing | |
| HP:0000316 | Hypertelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0000491 | Keratitis | |
| HP:0000579 | Nasolacrimal duct obstruction | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0011220 | Prominent forehead | |
| HP:0007663 | Reduced visual acuity | |
| HP:0001525 | Severe failure to thrive | |
| HP:0003510 | Severe short stature | |
| HP:0000582 | Upslanted palpebral fissure | |
| Occasional (29-5%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0001631 | Atrial septal defect | |
| HP:0000670 | Carious teeth | |
| HP:0000452 | Choanal stenosis | |
| HP:0000533 | Chorioretinal atrophy | |
| HP:0012450 | Chronic constipation | |
| HP:0012804 | Corneal ulceration | |
| HP:0000620 | Dacryocystitis | |
| HP:0004411 | Deviated nasal septum | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0012537 | Food intolerance | |
| HP:0009890 | High anterior hairline | |
| HP:0000343 | Long philtrum | |
| HP:0000160 | Narrow mouth | |
| HP:0045025 | Narrow palpebral fissure | |
| HP:0011451 | Primary microcephaly | |
| HP:0002098 | Respiratory distress | |
| HP:0000742 | Self-mutilation | |
| HP:0010782 | Shoulder dimple | |
| HP:0006979 | Sleep-wake cycle disturbance | |
| HP:0010298 | Smooth tongue | |
| HP:0002209 | Sparse scalp hair | |
| HP:0000217 | Xerostomia | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 21910235[PMID]_18241069[PMID]_2433942[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1051
- This record as JSON: /data/d/1051.json