Spondyloepiphyseal dysplasia tarda, Kohn type

General Information (adopted from Orphanet):

Synonyms, Signs: SEDT WITH MENTAL RETARDATION
Number of Symptoms 13
OrphanetNr: 163665
OMIM Id: 271620
ICD-10: Q77.7
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001249) Intellectual disability 1089 / 7739
2
 (HPO:0002673) Coxa valga 57 / 7739
3
 (HPO:0002655) Spondyloepiphyseal dysplasia 21 / 7739
4
 (HPO:0003185) Short sacroiliac notch 7 / 7739
5
 (HPO:0000926) Platyspondyly 150 / 7739
6
 (HPO:0008430) Anterior beaking of lumbar vertebrae 5 / 7739
7
 (OMIM) Flared iliac bones ('Mickey Mouse ear-shaped') 1 / 7739
8
 (OMIM) Unusually narrow femoral necks 1 / 7739
9
 (OMIM) Absent dens epistrophei 1 / 7739
10
 (OMIM) Mental retardation, mild to moderate 33 / 7739
11
 (OMIM) Acetabular deformity with femoral subluxation and coxa valga 1 / 7739
12
 (OMIM) Short sacrosciatic notch 1 / 7739
13
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In 3 daughters of healthy, consanguineous parents, Kohn et al. (1987) described spondyloepiphyseal dysplasia associated with mild to moderate mental retardation. A paternal aunt, married to a first cousin, was said to have a similarly affected offspring. Radiologic ...