ORPHA:412022
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
Synonyms: FDLAB syndrome · Facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome · Traboulsi syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome | FDLAB syndrome · Facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome · Traboulsi syndrome |
| fr | Syndrome de dysmorphie faciale-luxation du cristallin-anomalies du segment antérieur-bulles filtrantes spontanées | Syndrome FDLAB · Syndrome de Traboulsi · Syndrome de dysmorphie faciale-luxation du cristallin-anomalies du segment antérieur-kystes conjonctivaux non-traumatiques |
| de | Gesichtsdysmorphien-Linsendislokation-vordere Segmentanomalien-spontane Sickerkissen-Syndrom | FDLAB-Syndrom · Gesichtsdysmorphien - Linsendislokation - vordere Segmentanomalien - nicht-traumatische konjunktivale Zysten · Traboulsi-Syndrom |
| es | Síndrome de dismorfia facial-luxación del cristalino-anomalías del segmento anterior-ampollas filtrantes espontáneas | Síndrome FDLAB · Síndrome de Traboulsi · Síndrome de dismorfia facial-luxación del cristalino-anomalías del segmento anterior-quistes conjuntivos no traumáticos |
| it | Sindrome da dismorfismi facciali, dislocazione del cristallino, anomalie del segmento anteriore, bolle filtranti spontanee | Sindrome FDLAB · Sindrome di Traboulsi · Sindrome dismorfismi facciali-dislocazione del cristallino-anomalie del segmento anteriore-cisti della congiuntiva non traumatiche |
| nl | Faciale dysmorfie - lensdislocatie - anomalieën van voorste oogsegment - spontane filtratieblaasjes-syndroom | FDLAB-syndroom · Faciale dysmorfie - lensdislocatie - anomalieën van voorste oogsegment - niet-traumatische conjunctieve cysten-syndroom · Syndroom van Traboulsi |
| pt | Síndrome de dismorfia facial luxação do cristalino anomalias do segmento ocular anterior bolhas de filtração espontâneas | |
| pl | Zespół dysmorfia twarzy-przemieszczenie soczewki-zaburzenia przedniego segmentu-spontaniczne pęcherzyki filtracyjne spojówek | Zespół dysmorfia twarzy-przemieszczenie soczewki-zaburzenia przedniego segmentu-nieurazowe torbiele spojówki · Zespół FDLAB · Zespół Traboulsiego |
| cs | Syndrom zahrnující faciální dysmorfismus, dislokaci čočky, abnormality předního segmentu a netraumatické cysty spojivky | FDLAB syndrom · Traboulsiho syndrom · Syndrom zahrnující faciální dysmorfismus, luxaci čočky, abnormality předního segmentu a netraumatické cysty spojivky |
| uk | Синдром дисморфізму обличчя-дислокації кришталика-аномалії переднього сегмента - спонтанних фільтруючих пухирців | Синдром дисморфізму обличчя - дислокації кришталика - аномалії переднього сегмента - нетравматичних кіст конюнктиви · Синдром FDLAB · Синдром Трабульсі |
| zh | Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome | 特拉布尔西综合征 |
| tr | Yüz dismorfizmi-lens dislokasyonu-anterior segment anormallikleri-spontan filtreleme kabarcık sendromu | Fasiyal dismorfizm-lens çıkığı-anterior segment anormallikleri-travmatik olmayan konjonktif kist sendromu · FDLAB sendromu · Traboulsi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601552 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD21.Y | NTBT | attributed | validated |
| MONDO | 0011106 | E | validated | |
| UMLS | C1832167 | 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:519292Syndromic ectopia lentis
rare developmental anomalies during embryogenesis; rare ophthalmic disorders - ORPHA:522554Syndromic genetic ectopia lentis
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ASPH | Disease-causing germline mutation(s) in | Assessed | HGNC:757 | ENSG00000198363 | 600582 | 8q12.3 | aspartate beta-hydroxylase | 24768550[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 families | Worldwide | Family(ies) | Validated | 24768550[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24768550[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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/412022
- This record as JSON: /data/d/412022.json