Brachyolmia type 1, Toledo type

General Information (adopted from Orphanet):

Synonyms, Signs: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE
SED, CHONDROITIN SULFATE TYPE
PAPS-CHONDROITIN SULFATE SULFOTRANSFERASE DEFICIENCY
Number of Symptoms 30
OrphanetNr: 93303
OMIM Id: 271630
ICD-10: Q76.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Brachyolmia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Sulfation-related bone disorder
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000470) Short neck 345 / 7739
2
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
3
 (HPO:0007957) Corneal opacity 84 / 7739
4
 (HPO:0000481) Abnormality of the cornea Very frequent [Orphanet] 124 / 7739
5
 (HPO:0001288) Gait disturbance 318 / 7739
6
 (HPO:0008922) Childhood-onset short-trunk short stature 4 / 7739
7
 (HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
8
 (HPO:0002751) Kyphoscoliosis 131 / 7739
9
 (HPO:0100864) Short femoral neck 36 / 7739
10
 (HPO:0006413) Broad tibial metaphyses 1 / 7739
11
 (HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
12
 (HPO:0005257) Thoracic hypoplasia Very frequent [Orphanet] 79 / 7739
13
 (HPO:0003521) Disproportionate short-trunk short stature 29 / 7739
14
 (HPO:0002945) Intervertebral space narrowing 7 / 7739
15
 (HPO:0003301) Irregular vertebral endplates 25 / 7739
16
 (HPO:0003416) Spinal canal stenosis Occasional [Orphanet] 28 / 7739
17
 (HPO:0003418) Back pain 17 / 7739
18
 (HPO:0008418) Squared-off platyspondyly 2 / 7739
19
 (HPO:0002983) Micromelia Frequent [Orphanet] 130 / 7739
20
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
21
 (HPO:0000944) Abnormality of the metaphyses Frequent [Orphanet] 141 / 7739
22
 (HPO:0000926) Platyspondyly Very frequent [Orphanet] 150 / 7739
23
 (HPO:0006607) Precocious costochondral ossification 1 / 7739
24
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
25
 (HPO:0011020) Abnormality of mucopolysaccharide metabolism Very frequent [Orphanet] 17 / 7739
26
 (HPO:0012066) Increased urinary disaccharide excretion 2 / 7739
27
 (OMIM) Normal odontoid process 2 / 7739
28
 (OMIM) Short stature, disproportionate (short trunk), identifiable in childhood 2 / 7739
29
 (OMIM) Abnormal urinary mucopolysaccharides (elevated unsaturated nonsulfated disaccharides and decreased unsaturated 6-sulfated disaccharides) 1 / 7739
30
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In 2 males and 2 females from a sibship of 10, previously studied by Mourao et al. (1973), Toledo et al. (1978) observed spondyloepiphyseal dysplasia tarda, peripheral corneal opacities, and a qualitative abnormality of urinary mucopolysaccharides involving mainly ...