X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Adolescent, Childhood, Infancy, Neonatal
- Status
- active
A rare genetic disease characterized by congenital contractures of the distal interphalangeal joints, progressive stiffness of the shoulders and neck, keloid scarring, increased optic cup-to-disc ratio, and renal stones. Additional reported features include arthritis, osteoporosis, hypoplastic flexion creases, clinodactyly, anxiety, and facial dysmorphism (such as sloping forehead, prominent supraorbital ridges, downslanting palpebral fissures, prominent ears, and high arched palate). Female carriers exhibit a variable, milder phenotype.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome | |
| fr | Syndrome lié à l'X de cicatrices chéloïdes-mobilité articulaire réduite-rapport excavation/disque optique accru | |
| de | X-chromosomale keloide Vernarbung-verminderte Gelenkmobilität-erhöhte Papillenexkavation-Syndrom | |
| es | Síndrome ligado al cromosoma X de cicatrización queloide-movilidad articular reducida-aumento de la relación copa/disco óptico | |
| it | Sindrome cicatrici cheloidi-riduzione della mobilità articolare-aumento del rapporto coppa-disco ottico, legata all'X | |
| nl | X-gebonden keloïde littekenvorming - verminderde gewrichtsmobiliteit - verhoogde papilexcavatie-syndroom | |
| pt | Síndrome de cicatrizes quelóides-mobilidade articular reduzida-aumento da relação escavação/disco óptico ligada ao X | |
| pl | Zespół keloidów bliznowaciejących, ograniczonej ruchomości w stawach i podwyższonego stosunku średnicy zagłębienia do średnicy tarczy nerwu wzrokowego sprzężony z chromosomem X | |
| cs | Syndrom X-vázaných keloidních jizev, snížené kloubní mobility a zvýšeného poměru jamky a terče | |
| uk | Х-зчеплений синдром келоїдних рубців-зниження рухливості суглобів-підвищеного співвідношення чашки зорового нерва до диска зорового нерва | |
| zh | X连锁-瘢痕疙瘩-关节活动度降低-视杯视盘比增大综合征 | |
| tr | X'e bağlı keloid skarlaşması-azalmış eklem hareketliliği-artmış optik kapak-disk oranı sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| MONDO | 0044617 | E | validated | |
| UMLS | C5567520 | 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 (3):
- ORPHA:79359Other epidermal disorder
rare skin diseases - ORPHA:79360Other genetic epidermal disease
rare genetic diseases - ORPHA:441434Syndromic hereditary optic neuropathy
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FLNA | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3754 | ENSG00000196924 | 300017 | Xq28 | filamin A | 26804200[PMID]_26686323[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 26804200[PMID]_26686323[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26804200[PMID]_26686323[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
0 annotations · validated 2019-01-16Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/482606
- This record as JSON: /data/d/482606.json