Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
Synonyms: Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and deafness · Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss · FKBP14-related EDS · FKBP22-deficient EDS · Kyphoscoliotic EDS due to FKBP22 deficiency · kEDS-FKBP14
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency | Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and deafness · Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss · FKBP14-related EDS · FKBP22-deficient EDS · Kyphoscoliotic EDS due to FKBP22 deficiency · kEDS-FKBP14 |
| fr | Syndrome d'Ehlers-Danlos type cyphoscoliotique par déficit en FKBP22 | SED cyphoscoliotique par déficit en FKBP22 · SED type cyphoscoliotique lié à FKBP14 · SEDk-FKBP14 · Syndrome d'Ehlers Danlos avec cyphoscoliose, myopathie et surdité |
| de | Kyphoskoliotisches Ehlers-Danlos-Syndrom durch FKBP22-Defizienz | EDS mit progressiver Kyphoskoliose, Myopathie und Hörverlust · EDS, kyphoskoliotischer Typ mit Hörverlust · FKBP14-assoziiertes EDS · FKBP22-defizienzes EDS · Kyphoskoliotisches EDS durch FKBP22-Mangel · kEDS-FKBP14 |
| es | Síndrome de Ehlers-Danlos cifoescoliótico por deficiencia de FKBP22 | SED asociado a FKBP14 · SED cifoescoliótico por deficiencia de FKBP22 · SED deficiente en FKBP22 · Síndrome de Ehlers-Danlos con cifoescoliosis, miopatía e hipoacusia · Síndrome de Ehlers-Danlos con cifoescoliosis, miopatía y sordera |
| it | Sindrome di Ehlers-Danlos cifoscoliotica da defcit di FKBP22 | EDS con cifoscoliosi progressiva, miopatia e perdita dell'udito · EDS con cifoscoliosi progressiva, miopatia e sordità · EDS, tipo cifoscoliotico e sordità · Sindrome di Ehlers-Danlos con cifoscoliosi progressiva, miopatia e perdita dell'udito · Sindrome di Ehlers-Danlos con cifoscoliosi progressiva, miopatia e sordità · Sindrome di Ehlers-Danlos, tipo cifoscoliotico e perdita dell'udito |
| nl | Kyfoscoliotisch syndroom van Ehlers-Danlos door FKBP22-deficiëntie | FKBP14-gerelateerd EDS · FKBP22-deficiënt EDS · Kyfoscoliotisch EDS door FKBP22-deficiëntie · Syndroom van Ehlers-Danlos met kyfoscoliose, myopathie en gehoorverlies · kEDS-FKBP14 |
| pt | Síndrome Ehlers-Danlos cifoescoliótico por deficiência FKBP22 | EDS FKBP14-relacionado · EDS cifoescoliótico por deficiência FKBP22 · EDS com deficiência FKBP22 · EDS-FKBP14 cifoescoliótico · Síndrome Ehlers-Danlos com cifoescoliose, miopatia e surdez |
| pl | Zespół Ehlersa i Danlosa, typ kifoskoliotyczny i głuchota | EDS z postępującą kifoskoliozą, miopatią i głuchotą · EDS z postępującą kifoskoliozą, miopatią i utratą słuchu · EDS, typ kifoskoliotyczny i utrata słuchu · Zespół Ehlersa i Danlosa z postępującą kifoskoliozą, miopatią i głuchotą · Zespół Ehlersa i Danlosa z postępującą kifoskoliozą, miopatią i utratą słuchu · Zespół Ehlersa i Danlosa, typ kifoskoliotyczny i utrata słuchu |
| cs | Ehlers-Danlosův syndrom, forma kyfoskoliotická s hluchotou | EDS s progresivní kyfoskoliózou, myopatií a hluchotou · EDS s progresivní kyfoskoliózou, myopatií a ztátou sluchu · EDS, kyfoskoliotická forma se ztrátou sluchu · Ehlers-Danlosův syndrom s progresivní kyfoskoliózou, myopatií a hluchotou · Ehlers-Danlosův syndrom s progresivní kyfoskoliózou, myopatií a ztrátou sluchu · Ehlers-Danlosův syndrom, kyfoskoliotická forma se ztrátou sluchu |
| uk | Кіфосколіотичний синдром Елерса-Данлоса, зумовлений дефіцитом FKBP22 | Синдром Елерса-Данлоса з кіфосколіозом, міопатією та глухотою · Синдром Елерса-Данлоса з кіфосколіозом, міопатією та втратою слуху · EDS, повязані з FKBP14 · EDS з дефіцитом FKBP22 · kEDS-FKBP14 · Кіфосколіотичний EDS внаслідок дефіциту FKBP22 |
| zh | FKBP22缺陷所致脊柱后凸Ehler-Danlos综合征 | FKBP22基因缺陷所致脊柱后凸型Ehler-Danlos综合征 |
| tr | FKBP22 eksikliğine bağlı kifoskolyotik Ehlers-Danlos sendromu | Kifoskolyoz, miyopati ve sağırlık ile seyreden Ehlers-Danlos sendromu · Kifoskolyoz, miyopati ve işitme kaybı ile seyreden Ehlers-Danlos sendromu · kEDS-FKBP14 · FKBP14-ilişkili EDS · FKBP22-yetersiz EDS · FKBP22 eksikliğine bağlı kifoskolyotik EDS |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614557 | E | validated | |
| ICD-10 | Q79.6 | NTBT | attributed | validated |
| ICD-11 | LD28.1Y | NTBT | attributed | validated |
| MONDO | 0013800 | E | validated | |
| UMLS | C4303788 | 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 (1):
- ORPHA:536545Kyphoscoliotic Ehlers-Danlos syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare systemic and rheumatological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FKBP14 | Disease-causing germline mutation(s) in | Assessed | HGNC:18625 | ENSG00000106080 | 614505 | 7p14.3 | FKBP prolyl isomerase 14 | 22265013[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 27149304[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27149304[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
24 annotations · validated 2017-04-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008527 | Congenital sensorineural hearing impairment | Diagnostic criterion |
| HP:0007502 | Follicular hyperkeratosis | Diagnostic criterion |
| HP:0000974 | Hyperextensible skin | |
| HP:0001382 | Joint hypermobility | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0001270 | Motor delay | |
| HP:0003198 | Myopathy | |
| HP:0001763 | Pes planus | |
| HP:0002421 | Poor head control | |
| HP:0006829 | Severe muscular hypotonia | |
| HP:0003202 | Skeletal muscle atrophy | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0001075 | Atrophic scars | |
| HP:0000015 | Bladder diverticulum | Diagnostic criterion |
| HP:0000978 | Bruising susceptibility | |
| HP:0003388 | Easy fatigability | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0100790 | Hernia | |
| HP:0001324 | Muscle weakness | |
| HP:0000545 | Myopia | |
| HP:0000938 | Osteopenia | |
| Occasional (29-5%) | ||
| HP:0012372 | Abnormal eye morphology | |
| HP:0025019 | Arterial rupture | |
| Very rare (<4-1%) | ||
| HP:0001519 | Disproportionate tall stature | |
| HP:0000482 | Microcornea | |
Run the differential on the 11 obligate / very frequent terms
Annotation source: 22265013[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/300179
- This record as JSON: /data/d/300179.json