ORPHA:1064
Aniridia-renal agenesis-psychomotor retardation syndrome
historical
Synonyms: Sommer-Rathbun-Battles syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- historical
An extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Aniridia-renal agenesis-psychomotor retardation syndrome | Sommer-Rathbun-Battles syndrome |
| fr | Syndrome d'aniridie-agénésie rénale-retard psychomoteur | |
| de | Aniridie-Nierenagenesie-psychomotorische Retardierung-Syndrom | Sommer-Rathbun-Battles-Syndrom |
| es | Síndrome de aniridia-agenesia renal-retraso psicomotor | Síndrome de Sommer-Rathbun-Battles |
| it | Aniridia - agenesia renale - ritardo psicomotorio | Sindrome di Sommer-Rathbun-Battles |
| nl | Aniridie - renale agenesie - psychomotorische retardatie-syndroom | Syndroom van Sommer-Rathbun-Battles |
| pt | Síndrome de aniridia-agenesia renal-perturbação psicomotora | |
| pl | Aniridia - agnezja nerki - opóźnienie psycho-ruchowe | Zespół Sommera, Rathbuna i Battlesa |
| cs | Syndrom zahrnující aniridii, renální agenezi a psychomotorickou retardaci | Sommerův-Rathbunův-Battlesův syndrom · Sommer-Rathbun-Battlesův syndrom |
| uk | Синдром аніридії - ниркової агенезії - психомоторної затримки | Синдром Зоммера-Ратбуна-Баттлса |
| zh | 无虹膜-肾缺如-精神运动发育迟缓综合征 | Sommer-Rathbun-Battles综合征 |
| tr | Aniridi-renal agenezi-psikomotor gerilik sendromu | Sommer-Rathbun-Battles sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 206750 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0008796 | E | validated | |
| MeSH | C536371 | E | validated | |
| UMLS | C4518585 | E | validated | |
| GARD | 690 | 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 (7):
- 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:98638Rare disease with glaucoma as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:98557Syndromic aniridia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
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 | 4419812[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_4419812[PMID] |
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
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000526 | Aniridia | |
| HP:0000463 | Anteverted nares | |
| HP:0001363 | Craniosynostosis | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0001087 | Developmental glaucoma | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0002007 | Frontal bossing | |
| HP:0011342 | Mild global developmental delay | |
| HP:0004322 | Short stature | |
| HP:0000486 | Strabismus | |
| HP:0000506 | Telecanthus | |
| HP:0000122 | Unilateral renal agenesis | |
| Frequent (79-30%) | ||
| HP:0001334 | Communicating hydrocephalus | |
| HP:0007957 | Corneal opacity | |
| HP:0001252 | Hypotonia | |
| HP:0000347 | Micrognathia | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1064
- This record as JSON: /data/d/1064.json