Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome
Synonyms: PRR12-related neuroocular syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by neurodevelopmental delay, intellectual disability, variable structural eye defects including anophthalmia, microphthalmia, coloboma, optic nerve and iris abnormalities. Hypotonia and heart defects are present in the majority of the patients. Additional variable clinical features may include growth failure, skeletal abnormalities, kidney anomalies, sleeping problems and behavioral disturbances such as autism and anxiety.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome | PRR12-related neuroocular syndrome |
| fr | Syndrome d'anomalies congénitales multiples-retard neurodéveloppemental-anomalies oculaires | Syndrome neurooculaire lié à PRR12 |
| de | Multiple kongenitale Anomalien-neurologische Entwicklungsverzögerung-Augenanomalie-Syndrom | PRR12-assoziiertes neurookuläres Syndrom |
| es | Síndrome de anomalías congénitas múltiples-retraso del neurodesarrollo-anomalías oculares | Síndrome neuroocular asociado a PRR12 |
| it | Sindrome anomalie congenite multiple-ritardo dello sviluppo neurologico-anomalie oculari | Sindrome neuro-oculare correlata a PRR12 |
| nl | Multipele congenitale anomalieën - neurologische ontwikkelingsachterstand - oogafwijkingen-syndroom | PRR12-gerelateerd neuro-oculair syndroom |
| pt | Síndrome de anomalias congénitas múltiplas-perturbação do neurodesenvolvimento-anomalias oculares | Síndrome neuro-ocular PRR12-relacionada |
| pl | Zespół z mnogimi wadami wrodzonymi, opóźnieniem neurorozwojowym i nieprawidłowościami oka | = en |
| cs | Syndrom zahrnující mnohočetné vrozené anomálie, neurovývojové opoždění a abnormality očí | = en |
| uk | Синдром множинних вроджених аномалій-затримки нейророзвитку-аномалій очей | Нейроокулярний синдром, повязаний з PRR12 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619539 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0971007 | E | validated | |
| MONDO | 971007 | E | validated | |
| UMLS | C5925133 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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:519272Structural developmental eye defect
rare developmental anomalies during embryogenesis; rare ophthalmic disorders - ORPHA:522536Structural developmental eye defect of genetic origin
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PRR12 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:29217 | ENSG00000126464 | 616633 | 19q13.33 | proline rich 12 | 33824499[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 29 cases | Worldwide | Case(s) | Validated | 29556724[PMID]_33314030[PMID]_ 33824499[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 29556724[PMID]_33314030[PMID]_ 33824499[PMID]_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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/659904
- This record as JSON: /data/d/659904.json