Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome
Synonyms: FHONDA syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare, genetic, eye disease characterized by foveal hypoplasia, optic nerve misrouting with an increased number of axons decussating at the optic chiasm and innervating the contralateral cortex, and posterior embryotoxon or Axenfeld anomaly (indicating anterior segment dysgenesis), in the absence of albinism. Patients present congenital nystagmus, decreased visual acuity, refractive errors and, ocassionally, strabismus. Microphthalmia and retinochoroidal coloboma may also be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome | FHONDA syndrome |
| fr | Syndrome d'hypoplasie fovéolaire-défaut de décussation du nerf optique-dysgénésie du segment antérieur | Syndrome FHONDA |
| de | Syndrom der Foveahypoplasie mit Anomalie des Chiasma opticum und Dysgenesie des vorderen Augensegmentes | FHONDA-Syndrom |
| es | Síndrome de hipoplasia foveal-defecto de decusación del nervio óptico-disgenesia del segmento anterior | Síndrome FHONDA |
| it | Sindrome da ipoplasia della fovea, difetto della decussazione del nervo ottico e disgenesia del segmento anteriore | Sindrome FHONDA |
| nl | Foveale hypoplasie - decussatiedefect van nervus opticus - dysgenesie van voorste oogsegment-syndroom | FHONDA-syndroom |
| pt | Síndrome de hipoplasia da fóvea-defeito de decussação do nervos óptico-disgenésia do segmento anterior | |
| pl | Zespół hipoplazja dołka-defekt skrzyżowania nerwów wzrokowych-dysgenezja segmentu przedniego oka | Zespół FHONDA |
| cs | Syndrom zahrnující foveální hypoplázii, defekt decussatio nervi optici a dysgeneze předního segmentu | FHONDA syndrom |
| uk | Синдром гіпоплазії фовеальної частини ока-дефекту ураження зорового нерва-дисгенезії переднього сегмента | Синдром FHONDA |
| zh | 黄斑中心凹发育不良-视神经交叉缺损-眼前段发育不全综合征 | FHONDA综合征 |
| tr | Foveal hipoplazi-optik sinir deküzyon defekti-anterior segment disgenezi sendromu | FHONDA sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609218 | E | validated | |
| ICD-10 | Q15.8 | NTBT | attributed | validated |
| ICD-11 | 9C2Y | NTBT | attributed | validated |
| MONDO | 0012216 | E | validated | |
| UMLS | C5190596 | 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 (2):
- ORPHA:522510Rare genetic ophthalmic disorder with cranial nerve involvement
rare genetic diseases - ORPHA:519349Rare ophthalmic disorder with cranial nerve involvement
rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC38A8 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:32434 | ENSG00000166558 | 615585 | 16q23.3 | solute carrier family 38 member 8 | 24290379[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24290379[PMID] |
| Cases/families | 7 families | Worldwide | Family(ies) | Validated | 24290379[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/397618
- This record as JSON: /data/d/397618.json