ORPHA:2311
Autosomal recessive spondylocostal dysostosis
Synonyms: Jarcho-Levin syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare genetic axial skeletal dysostosis characterized by multiple segmentation defects of the vertebrae in combination with abnormalities of the ribs (malalignment, intercostal fusion and possible reduction in rib number), leading to short trunk in proportion to height, short neck and non-progressive scoliosis that is typically mild.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spondylocostal dysostosis | Jarcho-Levin syndrome |
| fr | Dysostose spondylo-costale autosomique récessive | Syndrome de Jarcho-Levin |
| de | Dysostose, spondylokostale, autosomal-rezessive | Jarcho-Levin-Syndrom |
| es | Disostosis espondilocostal autosómica recesiva | Síndrome de Jarcho-Levin |
| it | Disostosi spondilocostale autosomica recessiva | Sindrome di Jarcho-Levin |
| nl | Autosomaal recessieve spondylocostale dysostose | Syndroom van Jarcho-Levin |
| pt | Disostose espondilo-costal autossómica recessiva | |
| pl | Autosomalna recesywna dyzostoza kręgowo-żebrowa | Zespół Jarcho i Levina |
| cs | Autozomálně recesivní spondylothorakální dysplázie | Jarchův-Levinův syndrom · Jarcho-Levinův syndrom |
| uk | Аутосомно-рецесивний спондилокостальний дизостоз | Синдром Ярхо-Левіна |
| zh | 常染色体隐性脊椎肋骨发育不良 | Jarcho-Levin综合征 |
| tr | Otozomal resesif spondilokostal disostoz | Jarcho-Levin sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 122600 | BTNT | validated | |
| OMIM | 277300 | BTNT | validated | |
| OMIM | 608681 | BTNT | validated | |
| OMIM | 609813 | BTNT | validated | |
| OMIM | 613686 | BTNT | validated | |
| OMIM | 616566 | BTNT | validated | |
| ICD-10 | Q76.8 | NTBT | attributed | validated |
| ICD-11 | LD24.H | NTBT | index | validated |
| MONDO | 0010180 | E | validated | |
| MeSH | C537565 | E | validated | |
| UMLS | C0265343 | E | validated | |
| GARD | 6798 | 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 (3):
- ORPHA:371195Congenital disorder of glycosylation-related bone disorder
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:309505Disorder of fucoglycosan synthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:93454Dysostosis with predominant vertebral and costal involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
6 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DLL3 | Disease-causing germline mutation(s) in | Assessed | HGNC:2909 | ENSG00000090932 | 602768 | 19q13.2 | delta like canonical Notch ligand 3 | 20301771[PMID] |
| HES7 | Disease-causing germline mutation(s) in | Assessed | HGNC:15977 | ENSG00000179111 | 608059 | 17p13.1 | hes family bHLH transcription factor 7 | 20301771[PMID] |
| LFNG | Disease-causing germline mutation(s) in | Assessed | HGNC:6560 | ENSG00000106003 | 602576 | 7p22.3 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | 20301771[PMID] |
| MESP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:29659 | ENSG00000188095 | 605195 | 15q26.1 | mesoderm posterior bHLH transcription factor 2 | 20301771[PMID] |
| RIPPLY2 | Disease-causing germline mutation(s) in | Assessed | HGNC:21390 | ENSG00000203877 | 609891 | 6q14.2 | ripply transcriptional repressor 2 | 25343988[PMID] |
| TBX6 | Disease-causing germline mutation(s) in | Assessed | HGNC:11605 | ENSG00000149922 | 602427 | 16p11.2 | T-box transcription factor 6 | 27861764[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| 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
38 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0005108 | Abnormal intervertebral disk morphology | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0010978 | Abnormality of immune system physiology | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0000902 | Rib fusion | |
| HP:0006655 | Rib segmentation abnormalities | |
| HP:0002650 | Scoliosis | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| HP:0010306 | Short thorax | |
| HP:0003422 | Vertebral segmentation defect | |
| Frequent (79-30%) | ||
| HP:0002808 | Kyphosis | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000008 | Abnormal morphology of female internal genitalia | |
| HP:0000069 | Abnormality of the ureter | |
| HP:0010772 | Anomalous pulmonary venous return | |
| HP:0000463 | Anteverted nares | |
| HP:0000337 | Broad forehead | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0000175 | Cleft palate | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0000028 | Cryptorchidism | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0006101 | Finger syndactyly | |
| HP:0000047 | Hypospadias | |
| HP:0000023 | Inguinal hernia | |
| HP:0001249 | Intellectual disability | |
| HP:0000343 | Long philtrum | |
| HP:0000256 | Macrocephaly | |
| HP:0002435 | Meningocele | |
| HP:0000252 | Microcephaly | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000269 | Prominent occiput | |
| HP:0003298 | Spina bifida occulta | |
| HP:0001537 | Umbilical hernia | |
| HP:0100589 | Urogenital fistula | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2311
- This record as JSON: /data/d/2311.json