ORPHA:324540
Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
Synonyms: Aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome · Aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome | Aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome · Aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome |
| fr | Syndrome d'aphonie-surdité-dystrophie rétinienne-gros orteil bifide-déficience intellectuelle | |
| de | Aphonie-Schwerhörigkeit-Retinadystrophie-Bifid Hallux-Intelligenzminderung-Syndrom | Aphonie-Hörverlust-Retinadystrophie-verdoppelte Großzehe-Intelligenzminderung-Syndrom |
| es | Síndrome de afonía-sordera-distrofia retiniana-hallux bífido-discapacidad intelectual | Síndrome de afonía-hipoacusia-distrofia retiniana-duplicación del hallux-discapacidad intelectual · Síndrome de afonía-sordera-distrofia retiniana-duplicación del hallux-discapacidad intelectual |
| it | Sindrome da afonia, sordità, distrofia retinica, alluci bifidi e disabilità intellettiva | Afonia - sordità - distrofia retinica - duplicazione degli alluci - deficit cognitivo |
| nl | Afonie - doofheid - retinale dystrofie - gespleten halluces - intellectuele achterstand-syndroom | Afonie - doofheid - retinale dystrofie - verdubbelde halluces - intellectuele achterstand-syndroom · Afonie - gehoorverlies - retinale dystrofie - verdubbelde halluces - intellectuele achterstand-syndroom |
| pt | Síndrome de afonia-surdez-distrofia retiniana-hálux bífidos-perturbação do desenvolvimento intelectual | Síndrome de afonia-perda auditiva-distrofia retiniana-hálux bífidos-perturbação do desenvolvimento intelectual · Síndrome de afonia-surdez-distrofia retiniana-hálux duplicados-perturbação do desenvolvimento intelectual |
| pl | Afonia - głuchota - dystrofia siatkówki - rozszczep dużych palców stóp - niepełnosprawność intelektualna | Afonia - głuchota - dystrofia siatkówki - zdwojenie dużych palców stóp - niepełnosprawność intelektualna |
| cs | Syndrom zahrnující afonii, hluchotu, retinální dystrofii, zdvojené palce a mentální retardaci | Syndrom zahrnující afonii, hluchotu, retinální dystrofii, dvojité palce a mentální retardaci |
| uk | Синдром афонії-глухоти-дистрофії сітківки-bifid halluces-інтелектуальної недостатності | Ссиндром афонії-глухоти-дистрофії сітківки-подвоєних halluces- інтелектуальної недостатності · Ссиндром афонії-втрати слуху-дистрофії сітківки-подвоєних halluces- інтелектуальної недостатності |
| zh | 失音-耳聋-视网膜营养不良-双拇裂-智力障碍综合征 | 失音-听力丧失-视网膜营养不良-双拇趾-智力障碍综合征 |
| tr | Afoni-sağırlık-retinal distrofi-bifid halüsler-zihinsel yetersizlik sendromu | Afoni-sağırlık-retinal distrofi-duplike halüsler-zihinsel yetersizlik sendromu · Afoni-işitme kaybı-retina distrofi-duplike halüsler-zihinsel yetersizlik sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0017934 | E | validated | |
| UMLS | C4751006 | 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 (2):
- 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.
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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 | 2 cases | Worldwide | Case(s) | Validated | 22991300[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
35 annotations · validated 2019-10-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001488 | Bilateral ptosis | |
| HP:0011304 | Broad thumb | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0010193 | Duplication of distal phalanx of toe | |
| HP:0010066 | Duplication of phalanx of hallux | |
| HP:0011968 | Feeding difficulties | |
| HP:0009537 | Flexion contracture of the 2nd finger | |
| HP:0009600 | Flexion contracture of thumb | |
| HP:0000293 | Full cheeks | |
| HP:0001822 | Hallux valgus | |
| HP:0000059 | Hypoplastic labia majora | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0003186 | Inverted nipples | |
| HP:0009183 | Joint contracture of the 5th finger | |
| HP:0001602 | Laryngeal stenosis | |
| HP:0000527 | Long eyelashes | |
| HP:0000637 | Long palpebral fissure | |
| HP:0001686 | Loss of voice | |
| HP:0000691 | Microdontia | |
| HP:0000160 | Narrow mouth | |
| HP:0000648 | Optic atrophy | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000556 | Retinal dystrophy | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0001799 | Short nail | |
| HP:0000486 | Strabismus | |
| HP:0001182 | Tapered finger | |
| HP:0000574 | Thick eyebrow | |
| HP:0012471 | Thick vermilion border | |
| HP:0008757 | Unilateral vocal cord paralysis | |
| HP:0000687 | Widely spaced teeth | |
| Occasional (29-5%) | ||
| HP:0000048 | Bifid scrotum | |
| HP:0000064 | Hypoplastic labia minora | |
| HP:0000046 | Small scrotum | |
Annotation source: 22991300[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/324540
- This record as JSON: /data/d/324540.json