Thumb stiffness - brachydactyly - intellectual deficit

General Information (adopted from Orphanet):

Synonyms, Signs: Piussan-Lenaerts-Mathieu syndrome
Number of Symptoms 10
OrphanetNr: 1078
OMIM Id: 188201
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 6 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndrome with brachydactyly
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0001249) Intellectual disability 1089 / 7739
2
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
3
 (HPO:0001172) Abnormality of the thumb Very frequent [Orphanet] 103 / 7739
4
 (HPO:0009371) Type A1 brachydactyly 2 / 7739
5
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
6
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
7
 (HPO:0001513) Obesity Frequent [Orphanet] 172 / 7739
8
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
9
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
10
 (OMIM) Stiff thumbs 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: