SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE

General Information (adopted from Orphanet):

Synonyms, Signs: STARK-KAESER SYNDROME
KAESER SYNDROME
SCAPULOPERONEAL SYNDROME, NEUROGENIC TYPE, OF KAESER
SCPNK
Number of Symptoms 6
OrphanetNr:
OMIM Id: 181400
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001762) Talipes equinovarus 309 / 7739
2
(HPO:0009049) Peroneal muscle atrophy 8 / 7739
3
(HPO:0003704) Scapuloperoneal weakness 6 / 7739
4
(HPO:0003724) Shoulder girdle muscle atrophy 14 / 7739
5
(OMIM) Bilateral foot drop 2 / 7739
6
(OMIM) Late bulbar involvement 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Peroneal atrophy is accompanied by bilateral foot drop and talipes equinovarus. Following atrophy of the lower legs, the shoulder girdle is involved. Bulbar involvement is late. Autopsy shows muscular atrophy and involvement of caudal cranial nuclei. Palmer (1932) ...
Molecular genetics OMIM By genetic analysis of the original kindred described by Kaeser (1964), Walter et al. (2007) found possible linkage to the gene encoding desmin (DES; 125660) and identified a heterozygous missense mutation of the desmin gene R350P (125660.0016) cosegregating ...