Lowry-Wood syndrome
Synonyms: Epiphyseal dysplasia-microcephaly-nystagmus syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare disorder characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lowry-Wood syndrome | Epiphyseal dysplasia-microcephaly-nystagmus syndrome |
| fr | Syndrome de Lowry-Wood | Syndrome de dysplasie épiphysaire-microcéphalie-nystagmus |
| de | Lowry-Wood-Syndrom | Dysplasie, epiphysäre - Mikrozephalie - Nystagmus |
| es | Síndrome de Lowry-Wood | Displasia epifisaria-microcefalia-nistagmo |
| it | Displasia epifisaria - microcefalia - nistagmo | Sindrome di Lowry-Wood |
| nl | Syndroom van Lowry-Wood | Epifysaire dysplasie - microcefalie - nystagmus-syndroom |
| pt | Síndrome Lowry-Wood | Displasia epifisária-microcefalia-nistagmo |
| pl | Zespół Lowry'ego i Wooda | Dysplazja nasadowa - małogłowie - zez |
| cs | Lowryho-Woodův syndrom | Syndrom zahrnující epifyzární dysplázii, mikrocefalii a nystagmus · Lowry-Woodův syndrom |
| uk | Синдром Лоурі-Вуда | Синдром епіфізарної дисплазії-мікроцефалії-ністагму |
| zh | Lowry-Wood综合征 | 骨骺发育不良-小头畸形-眼球震颤综合征 |
| tr | Lowry-Wood sendromu | Epifizyal displazi-mikrosefali-nistagmus sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 226960 | E | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| ICD-11 | LD24.6Y | NTBT | index | validated |
| MONDO | 0009191 | E | validated | |
| MeSH | C537038 | E | validated | |
| UMLS | C0796021 | E | validated | |
| GARD | 264 | E | validated | |
| MedDRA | 10062600 | 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:93429Multiple epiphyseal dysplasia and pseudoachondroplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RNU4ATAC | Disease-causing germline mutation(s) in | Assessed | HGNC:34016 | ENSG00000264229 | 601428 | 2q14.2 | RNA, U4atac small nuclear | 29265708[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 12605445[PMID]_19288552[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_12605445[PMID]_19288552[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
21 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0002656 | Epiphyseal dysplasia | |
| HP:0010582 | Irregular epiphyses | |
| HP:0000252 | Microcephaly | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0002829 | Arthralgia | |
| HP:0002812 | Coxa vara | |
| HP:0001249 | Intellectual disability | |
| HP:0000639 | Nystagmus | |
| Occasional (29-5%) | ||
| HP:0100643 | Abnormality of nail color | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0000483 | Astigmatism | |
| HP:0001156 | Brachydactyly | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0003083 | Dislocated radial head | |
| HP:0003042 | Elbow dislocation | |
| HP:0001387 | Joint stiffness | |
| HP:0002999 | Patellar dislocation | |
| HP:0000926 | Platyspondyly | |
| HP:0000505 | Visual impairment | |
Run the differential on the 5 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1824
- This record as JSON: /data/d/1824.json