Microcephalic osteodysplastic dysplasia, Saul-Wilson type

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 20
OrphanetNr: 85172
OMIM Id:
ICD-10: Q78.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Microcephalic primordial dwarfism
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000418) Narrow nasal ridge 15 / 7739
2
 (HPO:0000444) Convex nasal ridge Very frequent [Orphanet] 87 / 7739
3
 (HPO:0010669) Hypoplasia of the zygomatic bone Very frequent [Orphanet] 3 / 7739
4
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
5
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
6
 (HPO:0000446) Narrow nasal bridge Very frequent [Orphanet] 29 / 7739
7
 (HPO:0000520) Proptosis Very frequent [Orphanet] 192 / 7739
8
 (HPO:0000272) Malar flattening Very frequent [Orphanet] 277 / 7739
9
 (HPO:0011220) Prominent forehead Very frequent [Orphanet] 137 / 7739
10
 (HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
11
 (HPO:0011927) Short digit Very frequent [Orphanet] 17 / 7739
12
 (HPO:0001156) Brachydactyly syndrome Very frequent [Orphanet] 180 / 7739
13
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
14
 (HPO:0200055) Small hand Very frequent [Orphanet] 71 / 7739
15
 (HPO:0009381) Short finger Very frequent [Orphanet] 45 / 7739
16
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
17
 (HPO:0009803) Short phalanx of finger Very frequent [Orphanet] 79 / 7739
18
 (HPO:0010579) Cone-shaped epiphysis Very frequent [Orphanet] 54 / 7739
19
 (HPO:0003510) Severe short stature Very frequent [Orphanet] 90 / 7739
20
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: