ORPHA:2980
Acrootoocular syndrome
Synonyms: Pseudopapilledema-blepharophimosis-hand anomalies syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acrootoocular syndrome | Pseudopapilledema-blepharophimosis-hand anomalies syndrome |
| fr | Syndrome acrootooculaire | Syndrome de pseudo-oedème de la papille-blépharophimosis-main anormale |
| de | Akro-oto-okuläres Syndrom | Pseudopapillenödem - Blepharophimose - Anomalien der Hände |
| es | Síndrome acro-oto-ocular | Síndrome de pseudopapiledema-blefarofimosis-anomalías de la mano |
| it | Sindrome acro-oto-oculare | Pseudopapilledema - blefarofimosi - anomalie delle mani |
| nl | Acro-oto-oculair syndroom | Pseudopapiloedeem - blefarofimose - handanomalieën-syndroom |
| pt | Síndrome acro-oto-ocular | Síndrome de pseudo-papiledema-blefarofimose-anomalias da mão |
| pl | Zespół kończynowo-uszno-oczny | Zespół rzekomego obrzęku tarczy nerwu wzrokowego, zwężenia szpary powiekowej i anomalii rąk |
| cs | Akrootookulární syndrom | Syndrom zahrnující pseudoedém papily, blefarospasmus a anomálie ruky |
| uk | Акроотоокулярний синдром | Синдром псевдопапіломи-блефарофімозу-аномалії кисті |
| zh | 四肢-耳-眼综合征 | 假性视神经乳头水肿-睑裂狭小-手异常综合征 |
| tr | Akrootooküler sendrom | Psödopapilödem-blefarofimoz-el anomalileri sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 264475 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0009920 | E | validated | |
| MeSH | C564866 | E | validated | |
| UMLS | C1849661 | E | validated | |
| GARD | 4559 | 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:519339Pseudopapilledema
rare genetic diseases; rare ophthalmic disorders - ORPHA:98578Rare disorder with ptosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet 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
42 annotations · validated 2018-01-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0006143 | Abnormal finger flexion creases | |
| HP:0000363 | Abnormality of earlobe | |
| HP:0000301 | Abnormality of facial musculature | |
| HP:0000674 | Anodontia | |
| HP:0000413 | Atresia of the external auditory canal | |
| HP:0000581 | Blepharophimosis | |
| HP:0030842 | Choking episodes | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0012725 | Cutaneous syndactyly | |
| HP:0006184 | Decreased palmar creases | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000689 | Dental malocclusion | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000286 | Epicanthus | |
| HP:0001508 | Failure to thrive | |
| HP:0000683 | Grayish enamel | |
| HP:0002705 | High, narrow palate | |
| HP:0007481 | Hyperpigmented nevi | |
| HP:0000601 | Hypotelorism | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0000369 | Low-set ears | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0010765 | Palmar hyperkeratosis | |
| HP:0000767 | Pectus excavatum | |
| HP:0012428 | Prominent calcaneus | |
| HP:0000538 | Pseudopapilledema | |
| HP:0001852 | Sandal gap | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0009381 | Short finger | |
| HP:0001773 | Short foot | |
| HP:0010049 | Short metacarpal | |
| HP:0004322 | Short stature | |
| HP:0001831 | Short toe | |
| HP:0001518 | Small for gestational age | |
| HP:0010487 | Small hypothenar eminence | |
| HP:0001245 | Small thenar eminence | |
| HP:0011069 | Supernumerary tooth | |
| HP:0012810 | Wide nasal base | |
| Excluded (0%) | ||
| HP:0001249 | Intellectual disability | |
Annotation source: 9415472[PMID]_1785624[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2980
- This record as JSON: /data/d/2980.json