Talo-patello-scaphoid osteolysis

General Information (adopted from Orphanet):

Synonyms, Signs: Singh-Williams-McAlister syndrome
Number of Symptoms 11
OrphanetNr: 50809
OMIM Id: 609655
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Primary osteolysis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0100769) Synovitis Very frequent [Orphanet] 86 / 7739
2
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
3
 (HPO:0006378) Osteolysis of patellae 1 / 7739
4
 (HPO:0003045) Abnormality of the patella Very frequent [Orphanet] 33 / 7739
5
 (HPO:0006202) Osteolysis of scaphoids 1 / 7739
6
 (HPO:0010044) Short 4th metacarpal 14 / 7739
7
 (HPO:0002797) Osteolysis Very frequent [Orphanet] 68 / 7739
8
 (HPO:0008095) Osteolysis of talus 1 / 7739
9
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
10
 (OMIM) Normal kidneys 2 / 7739
11
 (HPO:0003621) Juvenile onset 105 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: