Microcephalic osteodysplastic dysplasia, Saul-Wilson type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Microcephalic osteodysplastic dysplasia, Saul-Wilson type is a skeletal dysplasia characterized by a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses <i>etc.</i>).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microcephalic osteodysplastic dysplasia, Saul-Wilson type | |
| fr | Dysplasie ostéodysplasique microcéphalique type Saul-Wilson | |
| de | Dysplasie, mikrozephale osteodysplastische, Typ Saul-Wilson | |
| es | Displasia microcefálica osteodisplásica tipo Saul Wilson | |
| it | Displasia osteodisplastica microcefalica, tipo Saul-Wilson | |
| nl | Microcefale osteodysplastische dysplasie, Saul-Wilson-type | |
| pt | Displasia osteodisplásica microcefálica, tipo Saul-Wilson | |
| pl | Mikrocefaliczna dysplazja osteodysplastyczna, typ Saula i Wilsona | |
| cs | Mikrocefalická osteodysplastická dysplázie, Saulův-Wilsonův typ | Mikrocefalická osteodysplastická dysplázie, Saul-Wilsonův typ |
| uk | Мікроцефальна остеодиспластична дисплазія, тип Саула-Вільсона | |
| zh | 小头骨发育不良症，Saul-Wilson型 | |
| tr | Mikrosefalik osteodisplastik displazi, Saul-Wilson tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618150 | E | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| ICD-11 | LD24.D | NTBT | index | validated |
| MONDO | 0019407 | E | validated | |
| UMLS | C4509877 | 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:324761Microcephalic primordial dwarfism
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:93440Slender bone dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COG4 | Disease-causing germline mutation(s) in | Assessed | HGNC:18620 | ENSG00000103051 | 606976 | 16q22.1 | component of oligomeric golgi complex 4 | 30290151[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 8074143[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8074143[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
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000518 | Cataract | |
| HP:0010230 | Cone-shaped epiphyses of the phalanges of the hand | |
| HP:0000444 | Convex nasal ridge | |
| HP:0002007 | Frontal bossing | |
| HP:0003311 | Hypoplasia of the odontoid process | |
| HP:0004582 | Irregularity of vertebral bodies | |
| HP:0000272 | Malar flattening | |
| HP:0000252 | Microcephaly | |
| HP:0000446 | Narrow nasal bridge | |
| HP:0011833 | Overhanging nasal tip | |
| HP:0000926 | Platyspondyly | |
| HP:0000520 | Proptosis | |
| HP:0004279 | Short palm | |
| HP:0004322 | Short stature | |
| HP:0200055 | Small hand | |
| HP:0001762 | Talipes equinovarus | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 8074143[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85172
- This record as JSON: /data/d/85172.json