ORPHA:397715
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Synonyms: JBTS with JATD · Joubert syndrome with JATD
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare genetic developmental defect during embryogenesis characterized by the association of the classic features of Joubert syndrome (congenital midbrain-hindbrain malformations causing hypotonia, abnormal breathing and eye movements, ataxia and cognitive impairment) together with the skeletal anomalies of Jeune asphyxiating thoracic dystrophy (short ribs, long and narrow thorax causing respiratory failure, short-limbs, short stature, and polydactyly). Additional variable manifestations include cystic kidneys, liver fibrosis, and retinal dystrophy.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | JBTS with JATD · Joubert syndrome with JATD |
| fr | Syndrome de Joubert avec dystrophie thoracique asphyxiante de Jeune | JBTS avec JATD · Syndrome de Joubert avec JATD |
| de | Joubert-Syndrom mit Jeune asphyxierender Thoraxdystrophie | JBTS mit JATD · Joubert-Syndrom mit JATD |
| es | Síndrome de Joubert con distrofia torácica asfixiante de Jeune | JBTS con JATD · Síndrome de Joubert con JATD |
| it | Sindrome di Joubert con distrofia toracica asfissiante di Jeune | JBTS con JATD · Sindrome di Joubert con JATD |
| nl | Syndroom van Joubert met asfyxiërende thoracale dystrofie van Jeune | JBTS met JATD · Syndroom van Joubert met JATD |
| pt | Síndrome de Joubert com distrofia torácica asfixiante de Jeune | |
| pl | Zespół Joubert z zaciskającą dystrofią klatki piersiowej Jeune'a | JBTS z JATD · Zespół Joubert z JATD |
| cs | Joubertův syndrom s Jeuneho dystrofií hrudníku vedoucí k asfyxii | JBTS s JATD · Joubertův syndrom s JATD |
| uk | Синдром Жубера з асфіктичною грудною дистрофією Жене | JBTS з JATD · Синдром Жубера з JATD |
| zh | Joubert综合征伴Jeune窒息性胸廓营养不良 | Joubert综合征伴JATD |
| tr | Jeune boğucu torasik distrofi ile seyreden Joubert sendromu | JATD ile seyreden JBTS · JATD ile seyreden Joubert sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615636 | BTNT | validated | |
| OMIM | 616546 | BTNT | validated | |
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| MONDO | 0018342 | E | validated | |
| UMLS | C4518774 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:140874Joubert syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders - ORPHA:1505Short rib-polydactyly syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare respiratory diseases; rare bone diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CSPP1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:26193 | ENSG00000104218 | 611654 | 8q13.1-q13.2 | centrosome and spindle pole associated protein 1 | 24360808[PMID] |
| KIAA0586 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:19960 | ENSG00000100578 | 610178 | 14q23.1 | KIAA0586 | 26386044[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 24360808[PMID]_20503315[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24360808[PMID]_20503315[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.
6
HPO phenotypes
73 annotations · validated 2018-03-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0011933 | Elongated superior cerebellar peduncle | |
| HP:0001508 | Failure to thrive | |
| HP:0002007 | Frontal bossing | |
| HP:0001290 | Generalized hypotonia | |
| HP:0004719 | Hyperechogenic kidneys | |
| HP:0002419 | Molar tooth sign on MRI | |
| HP:0000657 | Oculomotor apraxia | |
| HP:0002789 | Tachypnea | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0002134 | Abnormal basal ganglia morphology | |
| HP:0001317 | Abnormal cerebellum morphology | |
| HP:0001273 | Abnormal corpus callosum morphology | |
| HP:0010013 | Abnormality of the 5th metacarpal | |
| HP:0003170 | Abnormality of the acetabulum | |
| HP:0012795 | Abnormality of the optic disc | |
| HP:0001331 | Absent septum pellucidum | |
| HP:0001344 | Absent speech | |
| HP:0006711 | Aplasia/Hypoplasia involving bones of the thorax | |
| HP:0002104 | Apnea | |
| HP:0001591 | Bell-shaped thorax | |
| HP:0001156 | Brachydactyly | |
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0008445 | Cervical spinal canal stenosis | |
| HP:0006528 | Chronic lung disease | |
| HP:0030048 | Colpocephaly | |
| HP:0010579 | Cone-shaped epiphysis | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0007082 | Dilated third ventricle | |
| HP:0009921 | Duane anomaly | |
| HP:0002195 | Dysgenesis of the cerebellar vermis | |
| HP:0008797 | Early ossification of capital femoral epiphyses | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0002280 | Enlarged cisterna magna | |
| HP:0000286 | Epicanthus | |
| HP:0011968 | Feeding difficulties | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001263 | Global developmental delay | |
| HP:0000316 | Hypertelorism | |
| HP:0000047 | Hypospadias | |
| HP:0002516 | Increased intracranial pressure | |
| HP:0006956 | Lateral ventricle dilatation | |
| HP:0000890 | Long clavicles | |
| HP:0000369 | Low-set ears | |
| HP:0002435 | Meningocele | |
| HP:0000347 | Micrognathia | |
| HP:0000545 | Myopia | |
| HP:0002085 | Occipital encephalocele | |
| HP:0100954 | Open operculum | |
| HP:0000396 | Overfolded helix | |
| HP:0100259 | Postaxial polydactyly | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0003411 | Proximal femoral metaphyseal irregularity | |
| HP:0002100 | Recurrent aspiration pneumonia | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0005989 | Redundant neck skin | |
| HP:0000803 | Renal cortical cysts | |
| HP:0000110 | Renal dysplasia | |
| HP:0000083 | Renal insufficiency | |
| HP:0000556 | Retinal dystrophy | |
| HP:0004991 | Rhizomelic arm shortening | |
| HP:0012106 | Rhizomelic leg shortening | |
| HP:0011927 | Short digit | |
| HP:0000773 | Short ribs | |
| HP:0004322 | Short stature | |
| HP:0004629 | Small cervical vertebral bodies | |
| HP:0031528 | Subretinal deposits | |
| HP:0002558 | Supernumerary nipple | |
| HP:0005257 | Thoracic hypoplasia | |
| HP:0006668 | Twelfth rib hypoplasia | |
| HP:0000572 | Visual loss | |
| HP:0006610 | Wide intermamillary distance | |
Annotation source: 20503315[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/397715
- This record as JSON: /data/d/397715.json