Hypomyelination neuropathy-arthrogryposis syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal
- Status
- active
Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (incl. talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypomyelination neuropathy-arthrogryposis syndrome | |
| fr | Syndrome de neuropathie hypomyélinisante-arthrogrypose | |
| de | Hypomyelinisierung-Neuropathie-Arthrogrypose-Syndrom | Boylan-Dew-Syndrom |
| es | Síndrome de neuropatía por hipomielinización-artrogriposis | |
| it | Sindrome da neuropatia ipomielinizzante e artrogriposi | Sindrome di Boylan-Dew |
| nl | Hypomyeliniserende neuropathie - artrogrypose-syndroom | |
| pt | Síndrome de neuropatia por hipomielinização-artrogripose | |
| pl | Neuropatia hipomielinizacyjna - artrogrypoza | Zespół Boylana i Dew |
| cs | Syndrom zahrnující neuropatii s hypomyelinizací a artrogrypózu | Boylanův-Dewův syndrom |
| uk | Синдром гіпомієлінізаційної нейропатії-артрогрипозу | |
| zh | 脱髓鞘神经病变-关节挛缩综合征 | |
| tr | Hipomiyelinasyon nöropati-artrogripozis sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616286 | BTNT | not yet validated | |
| OMIM | 616287 | BTNT | not yet validated | |
| OMIM | 617468 | BTNT | validated | |
| OMIM | 618186 | BTNT | validated | |
| ICD-10 | Q68.8 | NTBT | attributed | validated |
| MONDO | 0017049 | E | validated | |
| UMLS | C4707882 | 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 (1):
- ORPHA:1037Arthrogryposis multiplex congenita
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LGI4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:18712 | ENSG00000153902 | 608303 | 19q13.12 | leucine rich repeat LGI family member 4 | 28318499[PMID] |
| ADCY6 | Disease-causing germline mutation(s) in | Assessed | HGNC:237 | ENSG00000174233 | 600294 | 12q13.12 | adenylate cyclase 6 | 24319099[PMID] |
| CNTNAP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:8011 | ENSG00000108797 | 602346 | 17q21.2 | contactin associated protein 1 | 24319099[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 24319099[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24319099[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
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003457 | EMG abnormality | |
| HP:0001252 | Hypotonia | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0002098 | Respiratory distress | |
Run the differential on the 5 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2680
- This record as JSON: /data/d/2680.json