ORPHA:1900
Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
Synonyms: Cutis hyperelastica · EDS VIA · Ehlers-Danlos syndrome type 6A · Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency · Lysyl hydroxylase-deficient EDS · Ocular-scoliotic EDS · kEDS-PLOD1
- 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 skin fragility, atrophic scarring, scleral/ocular fragility/rupture, microcornea, and facial dysmorphology (like low‐set ears, epicanthal folds, down‐slanting palpebral fissures, high palate). Molecular testing is obligatory to confirm the diagnosis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency | Cutis hyperelastica · EDS VIA · Ehlers-Danlos syndrome type 6A · Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency · Lysyl hydroxylase-deficient EDS · Ocular-scoliotic EDS · kEDS-PLOD1 |
| fr | Syndrome d'Ehlers-Danlos type cyphoscoliotique par déficit en lysyl hydroxylase 1 | Cutis hyperelastica · EDS VIA · SED VIA · SED type cyphoscoliotique par déficit en lysyl hydroxylase 1 · SED type oculo-scoliotique · SEDk-PLOD1 · Syndrome d'Ehlers-Danlos type 6A |
| de | Kyphoskoliotisches Ehlers-Danlos-Syndrom durch Lysyl-Hydroxylase 1-Mangel | kEDS-PLOD1 · EDS VIA · Ehlers-Danlos-Syndrom Typ 6A · Kyphoskoliotisches EDS durch Lysyl-Hydroxylase 1-Mangel · Lysyl-Hydroxylase-defizientes EDS · Okulär-skoliotisches EDS |
| es | Síndrome de Ehlers-Danlos cifoescoliótico por deficiencia de lisil hidroxilasa 1 | SED VIA · SED cifoescoliótico asociado a PLOD1 · SED cifoescoliótico por deficiencia de lisil hidroxilasa 1 · SED deficiente en lisil hidroxilasa · SED ocular-escoliótico · Síndrome de Ehlers-Danlos tipo 6A |
| it | Sindrome di Ehlers-Danlos cifoscoliotica da deficit di lisil idrossilasi 1 | EDS 6 · Sindrome di Ehlers-Danlos, tipo 6 |
| nl | Kyfoscoliotisch syndroom van Ehlers-Danlos door lysylhydroxylase 1-deficiëntie | Cutis hyperelastica · EDS VIA · Kyfoscoliotisch EDS door lysylhydroxylase 1-deficiëntie · Lysylhydroxylase-deficiënt EDS · Oculair-scoliotisch EDS · Syndroom van Ehlers-Danlos type 6A · kEDS-PLOD1 |
| pt | Síndrome Ehlers-Danlos tipo 6 cifoscoliótico por deficiência de lisil hidroxilase | EDS VI · Síndrome Ehlers-Danlos tipo 6 · Síndrome Ehlers-Danlos tipo cifoscoliótico |
| pl | Zespół Ehlersa i Danlosa, typ kifoskoliotyczny | EDS VIA · EDS, oczno-skoliotyczny · EDS, typ kifoskoliotyczny · Zespół Ehlersa i Danlosa typu 6A · Zespół Ehlersa i Danlosa, typ oczno-skoliotyczny |
| cs | Kyfoskoliotický Ehlersův-Danlosův syndrom způsobený deficiencí lysyl hydroxylázy 1 | EDS VIA · EDS, okuloskoliotický typ · EDS, kyfoskoliotický typ způsobený deficitem lysyl hydroxylázy 1 · Ehlersův-Danlosův syndrom, typ 6A · Ehlersův-Danlosův syndrom, okuloskoliotický typ · Kyfoskoliotický Ehlers-Danlosův syndrom způsobený deficiencí lysyl hydroxylázy 1 · Ehlers-Danlosův syndrom, typ 6A · Ehlers-Danlosův syndrom, okuloskoliotický typ |
| uk | Кіфосколіотичний синдром Елерса-Данлоса внаслідок дефіциту лізилгідроксилази 1 | Гіпереластична шкіра (Cutis hyperelastica) · EDS VIA · Синдром Елерса-Данлоса, тип 6А · kEDS-PLOD1 · Кіфосколіотичний EDS внаслідок дефіциту лізилгідроксилази 1 · EDS внаслідок дефіциту лізилгідроксилази · Окулярно-сколіотичний EDS |
| zh | 赖氨酰羟化酶1缺乏所致脊柱后侧凸型Ehlers-Danlos syndrome | 赖氨酸羟化酶缺乏EDS |
| tr | Lizil hidroksilaz 1 eksikliğine bağlı kifoskolyotik Ehlers-Danlos sendromu | Lizil hidroksilaz 1 eksikliğine bağlı kifoskolyotik EDS · EDS VIA · kEDS-PLOD1 · Kutis hiperelastika · Oküler-skolyotik EDS · Ehlers-Danlos sendromu tip 6A · Lizil hidroksilaz eksikliği olan EDS |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 225400 | E | validated | |
| ICD-10 | Q79.6 | NTBT | attributed | validated |
| ICD-11 | LD28.1Y | NTBT | index | validated |
| MONDO | 0016002 | E | validated | |
| UMLS | C0268342 | 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:536545Kyphoscoliotic Ehlers-Danlos syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare systemic and rheumatological diseases - ORPHA:519296Rare disorder with pigmented sclera
rare genetic diseases; rare ophthalmic disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:2691Nevo syndrome moved to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PLOD1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9081 | ENSG00000083444 | 153454 | 1p36.22 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | 15979919[PMID]_20301635[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1 / 100 000 | Worldwide | Value and class | Not yet validated | 21699693[PMID]_15666309[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | 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.
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HPO phenotypes
68 annotations · validated 2020-11-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0000978 | Bruising susceptibility | Diagnostic criterion |
| HP:0001030 | Fragile skin | Diagnostic criterion |
| HP:0000974 | Hyperextensible skin | Diagnostic criterion |
| HP:0001252 | Hypotonia | |
| HP:0001382 | Joint hypermobility | |
| HP:0001319 | Neonatal hypotonia | Diagnostic criterion |
| HP:0000938 | Osteopenia | Diagnostic criterion |
| HP:0000939 | Osteoporosis | Diagnostic criterion |
| HP:0005659 | Thoracic kyphoscoliosis | |
| Frequent (79-30%) | ||
| HP:0001075 | Atrophic scars | Diagnostic criterion |
| HP:0001519 | Disproportionate tall stature | |
| HP:0000286 | Epicanthus | Diagnostic criterion |
| HP:0002761 | Generalized joint hypermobility | Diagnostic criterion |
| HP:0002827 | Hip dislocation | |
| HP:0001373 | Joint dislocation | Diagnostic criterion |
| HP:0032153 | Joint subluxation | |
| HP:0000482 | Microcornea | Diagnostic criterion |
| HP:0001324 | Muscle weakness | |
| HP:0001762 | Talipes equinovarus | Diagnostic criterion |
| HP:0002943 | Thoracic scoliosis | |
| Occasional (29-5%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0004942 | Aortic aneurysm | |
| HP:0002647 | Aortic dissection | |
| HP:0005294 | Arterial dissection | |
| HP:0025019 | Arterial rupture | |
| HP:0000592 | Blue sclerae | Diagnostic criterion |
| HP:0008780 | Congenital bilateral hip dislocation | |
| HP:0008453 | Congenital kyphoscoliosis | Diagnostic criterion |
| HP:0003199 | Decreased muscle mass | |
| HP:0002194 | Delayed gross motor development | |
| HP:0002617 | Dilatation | |
| HP:0020152 | Distal joint hypermobility | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0003324 | Generalized muscle weakness | |
| HP:0000501 | Glaucoma | |
| HP:0030043 | Hip subluxation | |
| HP:0000540 | Hypermetropia | Diagnostic criterion |
| HP:0002495 | Impaired vibratory sensation | |
| HP:0000023 | Inguinal hernia | Diagnostic criterion |
| HP:0003690 | Limb muscle weakness | |
| HP:0001634 | Mitral valve prolapse | |
| HP:0100295 | Muscle fiber atrophy | |
| HP:0000545 | Myopia | Diagnostic criterion |
| HP:0002999 | Patellar dislocation | |
| HP:0000767 | Pectus excavatum | Diagnostic criterion |
| HP:0001058 | Poor wound healing | Diagnostic criterion |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0000541 | Retinal detachment | |
| HP:0025513 | Scleral rupture | Diagnostic criterion |
| HP:0003835 | Shoulder subluxation | |
| HP:0000664 | Synophrys | Diagnostic criterion |
| HP:0001537 | Umbilical hernia | Diagnostic criterion |
| HP:0031158 | Widened atrophic scar | |
| Very rare (<4-1%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0002624 | Abnormal venous morphology | |
| HP:0045052 | Abnormality of the brachial nerve plexus | |
| HP:0001635 | Congestive heart failure | |
| HP:0002987 | Elbow flexion contracture | |
| HP:0002705 | High, narrow palate | Diagnostic criterion |
| HP:0031629 | Impaired tandem gait | |
| HP:0003477 | Peripheral axonal neuropathy | |
| HP:0001763 | Pes planus | |
| HP:0006532 | Recurrent pneumonia | |
| HP:0002091 | Restrictive ventilatory defect | |
| HP:0000486 | Strabismus | |
| HP:0000243 | Trigonocephaly | |
| HP:0031189 | Wrist drop | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 25266621[PMID]_19760654[PMID]_20301635[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1900
- This record as JSON: /data/d/1900.json