Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
Synonyms: H-SMD · Hypomyelination-spondyloepimetaphyseal dysplasia syndrome · Leukoencephalopathy-SEMD syndrome · Leukoencephalopathy-metaphyseal chondrodysplasia syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome | H-SMD · Hypomyelination-spondyloepimetaphyseal dysplasia syndrome · Leukoencephalopathy-SEMD syndrome · Leukoencephalopathy-metaphyseal chondrodysplasia syndrome |
| fr | Syndrome de leucoencéphalopathie-dysplasie spondylo-épimétaphysaire | H-SMD · Syndrome d'hypomyélinisation-dysplasie spondylo-métaphysaire · Syndrome de leucoencéphalopathie-SEMD · Syndrome de leucoencéphalopathie-chondrodysplasie métaphysaire |
| de | Leukoenzephalopathie-spondylometaphysäre Dysplasie-Syndrom | H-SMD · Hypomyelinisierung-spondyloepimetaphysäre Dysplasie-Syndrom · Leukenzephalopathie-SEMD-Syndrom · Leukoenzephalopathie-spondylometaphysäre Chondrodysplasie-Syndrom |
| es | Síndrome de leucoencefalopatía-displasia espondiloepimetafisaria | Síndrome de hipomielinización-displasia espondiloepimetafisaria · Síndrome de leucoencefalopatía-condrodisplasia metafisaria |
| it | Sindrome leucoencefalopatia -displasia spondilometafisaria | |
| nl | Leuko-encefalopathie - spondylo-epimetafysaire dysplasie-syndroom | H-SMD · Hypomyelinisatie - spondylo-epimetafysaire dysplasie-syndroom · Leuko-encefalopathie - SEMD-syndroom · Leuko-encefalopathie - metafysaire chondrodysplasie-syndroom |
| pt | Síndrome de leucoencefalopatia-displasia espondiloepimetafisária | H-SMD · Síndrome de hipomielinização-displasia espondiloepimetafisária · Síndrome de leucoencefalopatia-SEMD · Síndrome de leucoencefalopatia-condrodisplasia metafisária |
| pl | Leukoencefalopatia - chondrodysplazja przynasadowa | = en |
| cs | Syndrom zahrnující leukoencefalopatii a metafyzární chondrodysplázii | = en |
| uk | Синдром лейкоенцефалопатії-спондилоепіметафізарної дисплазії | H-SMD · Синдром гіпомієлінізації-спондилоепіметафізарної дисплазії · Синдром лейкоенцефалопатії-метафізарної хондродисплазії · Синдром лейкоенцефалопатії-SEMD |
| zh | 脑白质病-脊柱干骺端发育不良综合征 | 脑白质病-干骺端软骨发育异常综合征 |
| tr | Lökoensefalopati-spondilometafizyel displazi sendromu | H-SMD · Hipomiyelinizasyon-spondilometafizyal displazi sendromu · Lökoensefalopati-metafizyal kondrodisplazi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300232 | E | validated | |
| ICD-10 | G37.8 | NTBT | attributed | validated |
| MONDO | 0010275 | E | validated | |
| UMLS | C4304743 | E | validated | |
| GARD | 4891 | 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 (4):
- ORPHA:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:68356Leukodystrophy
rare genetic diseases; rare neurological diseases - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases - ORPHA:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:168448Spondyloepimetaphyseal dysplasia, Bieganski type moved to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AIFM1 | Disease-causing germline mutation(s) in | Assessed | HGNC:8768 | ENSG00000156709 | 300169 | Xq26.1 | apoptosis inducing factor mitochondria associated 1 | 27102849[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 16924009[PMID]_10486082[PMID]_27102849[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16924009[PMID]_10486082[PMID]_27102849[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
23 annotations · validated 2018-02-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002352 | Leukoencephalopathy | |
| HP:0005871 | Metaphyseal chondrodysplasia | |
| Frequent (79-30%) | ||
| HP:0100707 | Abnormal astrocyte morphology | |
| HP:0012747 | Abnormal brainstem MRI signal intensity | |
| HP:0000587 | Abnormal optic nerve morphology | |
| HP:0003487 | Babinski sign | |
| HP:0002059 | Cerebral atrophy | |
| HP:0003020 | Enlargement of the wrists | |
| HP:0001288 | Gait disturbance | |
| HP:0001347 | Hyperreflexia | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001249 | Intellectual disability | |
| HP:0030866 | Large knee | |
| HP:0002062 | Morphological abnormality of the pyramidal tract | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0001258 | Spastic paraplegia | |
| HP:0030051 | Tip-toe gait | |
| HP:0001337 | Tremor | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000666 | Horizontal nystagmus | |
| HP:0011800 | Midface retrusion | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 16924009[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/83629
- This record as JSON: /data/d/83629.json