Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
Synonyms: Congenital muscular dystrophy, Davignon-Chauveau type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare congenital muscular dystrophy characterized by neonatal hypotonia, life-threatening respiratory failure, and feeding difficulties, furthermore by delayed motor development, severe muscle weakness predominantly affecting axial muscles (leading to poor head control, rigid cervical spine, and severe scoliosis), generalized joint laxity with no or mild contractures, as well as dry skin with follicular hyperkeratosis. Serum creatine kinase is normal or slightly elevated. Muscle biopsy shows fiber size variability, rounded fibers with mild increase of endomysial connective tissue and adipose replacement, abundant minicore lesions, increase of centrally located nuclei, angular fibers, and cap lesions.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome | Congenital muscular dystrophy, Davignon-Chauveau type |
| fr | Syndrome de dystrophie musculaire congénitale-atteinte respiratoire précoce-anomalies cutanées-hyperlaxité articulaire | Dystrophie musculaire congénitale, Davignon-Chauveau |
| de | Kongenitale Muskeldystrophie-Atemversagen-Hautanomalien-Gelenkinstabilität-Syndrom | Muskeldystrophie, kongenitale, Typ Davignon-Chauveau |
| es | Síndrome de distrofia muscular congénita-insuficiencia respiratoria-anomalías cutáneas-hiperlaxitud articular | Distrofia muscular congénita tipo Davignon-Chauveau |
| it | Sindrome distrofia muscolare congenita - insufficienza respiratoria - anomalie della cute - iperlassità articolare | |
| nl | Congenitale musculaire dystrofie - respiratoir falen - huidafwijkingen - gewrichtshyperlaxiteit-syndroom | Congenitale musculaire dystrofie, Davignon-Chauveau-type · Congenitale spierdystrofie - ademhalingsfalen - huidafwijkingen - gewrichtshypermobiliteit-syndroom · Congenitale spierdystrofie, Davignon-Chauveau-type |
| pt | Síndrome de distrofia muscular congénita-insuficiência respiratória-anomalias cutâneas-hipermobilidade articular | |
| pl | Zespół wrodzonej dystrofii mięśniowej, niewydolności oddechowej, nieprawidłowości skórnych i wiotkości stawów | Wrodzona dystrofia mięśniowa, typ Davignon i Chauveau |
| cs | Syndrom zahrnující vrozenou svalovou dystrofii, respirační selhání, abnormality kůže a hyperlaxicitu kloubů | Congenital muscular dystrophy, Davignon-Chauveau type · Vrozená svalová dystrofie typ Davignon-Chauveau |
| uk | Синдром вродженої мязової дистрофії-дихальної недостатності-аномалії шкіри-гіперлабільності суглобів | Вроджена мязова дистрофія, тип Давіньйон-Шово |
| zh | 先天性肌营养不良-呼吸衰竭-皮肤异常-关节松弛症 | 先天性肌营养不良Davignon-Chauveau型 |
| tr | Doğumsal kas distrofisi-solunum yetmezliği-deri anormallikleri-eklem hiperlaksite sendromu | Doğumsal kas distrofisi, Davignon-Chauveau tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617066 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| MONDO | 0014896 | E | validated | |
| UMLS | C4310736 | 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 (2):
- ORPHA:97242Congenital muscular dystrophy
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TRIP4 | Disease-causing germline mutation(s) in | Assessed | HGNC:12310 | ENSG00000103671 | 604501 | 15q22.31 | thyroid hormone receptor interactor 4 | 27008887[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 27008887[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27008887[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
30 annotations · validated 2018-06-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003458 | EMG: myopathic abnormalities | Diagnostic criterion |
| HP:0007502 | Follicular hyperkeratosis | Diagnostic criterion |
| HP:0001382 | Joint hypermobility | Diagnostic criterion |
| HP:0002747 | Respiratory insufficiency due to muscle weakness | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0010647 | Abnormal elasticity of skin | |
| HP:0003687 | Centrally nucleated skeletal muscle fibers | |
| HP:0000958 | Dry skin | |
| HP:0011968 | Feeding difficulties | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0001290 | Generalized hypotonia | |
| HP:0000218 | High palate | |
| HP:0003557 | Increased variability in muscle fiber diameter | |
| HP:0003690 | Limb muscle weakness | |
| HP:0003789 | Minicore myopathy | |
| HP:0001270 | Motor delay | |
| HP:0000467 | Neck muscle weakness | |
| HP:0000767 | Pectus excavatum | |
| HP:0002421 | Poor head control | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0002650 | Scoliosis | |
| HP:0003306 | Spinal rigidity | |
| Occasional (29-5%) | ||
| HP:0000028 | Cryptorchidism | |
| HP:0000823 | Delayed puberty | |
| HP:0000750 | Delayed speech and language development | |
| HP:0008180 | Mildly elevated creatine kinase | |
| HP:0002828 | Multiple joint contractures | |
| HP:0025502 | Overweight | |
| HP:0008081 | Pes valgus | |
| HP:0001612 | Weak cry | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 27008887[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/486815
- This record as JSON: /data/d/486815.json