ORPHA:2345
Isolated Klippel-Feil syndrome
Synonyms: Congenital cervical vertebral fusion · Congenital fused cervical segments · Klippel-Feil malformation · Klippel-Feil sequence
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated Klippel-Feil syndrome | Congenital cervical vertebral fusion · Congenital fused cervical segments · Klippel-Feil malformation · Klippel-Feil sequence |
| fr | Syndrome de Klippel-Feil isolé | Fusion congénitale des segments cervicaux · Fusion congénitale des vertèbres cervicales · Malformation de Klippel-Feil · Séquence de Klippel-Feil |
| de | Klippel-Feil-Syndrom, isoliertes | Halswirbelfusion, kongenitale · Klippel-Feil-Fehlbildung · Klippel-Feil-Sequenz · Wirbelkörperfusion |
| es | Síndrome de Klippel-Feil aislado | Fusión congénita de los segmentos cervicales · Fusión vertebral cervical congénita · Malformación de Klippel-Feil · Secuencia de Klippel-Feil |
| it | Sindrome isolata di Klippel-Feil | Fusione congenita dei segmenti cervicali · Fusione congenita delle vertebre cervicali · Fusioni delle vertebre cervicali · Malformazione di Klippel-Feil · Sequenza di Klippel-Feil |
| nl | Geïsoleerd syndroom van Klippel-Feil | Congenitale cervicale vertebrale fusie · Congenitale gefuseerde cervicale segmenten · Klippel-Feil-sequentie · Malformatie van Klippel-Feil |
| pt | Síndrome Klippel-Feil isolado | Fusão vertebral cervical |
| pl | Izolowany zespół Klippela i Feila | Malformacja Klippela i Feila · Sekwencja Klippela i Feila · Wrodzone zrosty kręgów szyjnych · Wrodzony zrost w odcinku szyjnym |
| cs | Izolovaný Klippelův-Feilův syndrom | Klippelova-Feilova malformace · Klippelova-Feilova sekvence · Vrozené splynutí krčních obratlů · Vrozené spojení krčních segmentů · Izolovaný Klippel-Feilův syndrom · Klippel-Feilova malformace · Klippel-Feilova sekvence |
| uk | Ізольований синдром Кліппеля-Фейля | Вроджене зрощення шийних хребців · Вроджені зрощені сегменти шийки матки · Вада розвитку Кліппеля-Фейля · Послідовність Кліппеля-Фейля |
| zh | 孤立型Klippel-Feil综合征 | 先天性颈椎融合术 |
| tr | İzole Klippel-Feil sendromu | Klippel-Feil dizisi · Klippel-Feil malformasyonu · Doğumsal kaynaşmış servikal segmentler · Doğumsal servikal vertebral füzyon |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 118100 | BTNT | validated | |
| OMIM | 214300 | BTNT | validated | |
| OMIM | 613702 | BTNT | validated | |
| ICD-10 | Q76.1 | E | specific | validated |
| ICD-11 | LB73.20 | E | specific | validated |
| MONDO | 0016520 | E | validated | |
| MeSH | D007714 | E | validated | |
| UMLS | C0022738 | E | validated | |
| GARD | 10280 | E | validated | |
| MedDRA | 10023464 | 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:93454Dysostosis with predominant vertebral and costal involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:117573Syndromic anorectal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GDF3 | Disease-causing germline mutation(s) in | Assessed | HGNC:4218 | ENSG00000184344 | 606522 | 12p13.31 | growth differentiation factor 3 | 19864492[PMID] |
| GDF6 | Disease-causing germline mutation(s) in | Assessed | HGNC:4221 | ENSG00000156466 | 601147 | 8q22.1 | growth differentiation factor 6 | 18425797[PMID] |
| MEOX1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7013 | ENSG00000005102 | 600147 | 17q21.31 | mesenchyme homeobox 1 | 23290072[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.6 / 100 000 | Europe | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
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
33 annotations · validated 2024-07-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005640 | Abnormal vertebral segmentation and fusion | |
| HP:0000925 | Abnormality of the vertebral column | |
| HP:0004602 | Cervical C2/C3 vertebral fusion | |
| HP:0000324 | Facial asymmetry | |
| HP:0005986 | Limitation of neck motion | |
| HP:0002162 | Low posterior hairline | |
| HP:0000470 | Short neck | |
| HP:0000465 | Webbed neck | |
| Frequent (79-30%) | ||
| HP:0000772 | Abnormal rib morphology | |
| HP:0000119 | Abnormality of the genitourinary system | |
| HP:0003043 | Abnormality of the shoulder | |
| HP:0005988 | Congenital muscular torticollis | |
| HP:0002315 | Headache | |
| HP:0000365 | Hearing impairment | |
| HP:0030833 | Neck pain | |
| HP:0002650 | Scoliosis | |
| HP:0003298 | Spina bifida occulta | |
| HP:0000912 | Sprengel anomaly | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0001291 | Abnormal cranial nerve morphology | |
| HP:0005107 | Abnormal sacrum morphology | |
| HP:0002023 | Anal atresia | |
| HP:0000175 | Cleft palate | |
| HP:0100543 | Cognitive impairment | |
| HP:0004397 | Ectopic anus | |
| HP:0000086 | Ectopic kidney | |
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0002414 | Spina bifida | |
| HP:0003416 | Spinal canal stenosis | |
| HP:0034980 | Synkinesis | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 29630209[PMID]_31577545[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2345
- This record as JSON: /data/d/2345.json