Spondyloepiphyseal dysplasia, Maroteaux type

General Information (adopted from Orphanet):

Synonyms, Signs: PSEUDO-MORQUIO SYNDROME, TYPE 2
SED, MAROTEAUX TYPE
Pseudo-Morquio syndrome type 2
Number of Symptoms 10
OrphanetNr: 263482
OMIM Id: 184095
ICD-10: Q77.7
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
TRPV4-related bone disorder
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000478) Abnormality of the eye 126 / 7739
2
 (HPO:0002655) Spondyloepiphyseal dysplasia 21 / 7739
3
 (HPO:0000926) Platyspondyly 150 / 7739
4
 (HPO:0002857) Genu valgum 144 / 7739
5
 (OMIM) No mucopolysacchariduria 4 / 7739
6
 (OMIM) No corneal clouding 1 / 7739
7
 (OMIM) Short and stubby hands and feet 1 / 7739
8
 (OMIM) Normal intelligence 81 / 7739
9
 (OMIM) Champagne-glass configuration of pelvic inlet 1 / 7739
10
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Doman et al. (1990) used the designation spondyloepiphyseal dysplasia (SED) of Maroteaux for a form of spondyloepiphyseal dysplasia with manifestations limited to the musculoskeletal system and with other features distinguishing it from Morquio syndrome of any type (253000, ...
Molecular genetics OMIM Nishimura et al. (2010) analyzed the candidate gene TRPV4 (605427) in 6 patients with the Maroteaux type of SED, including 3 previously reported patients (Nishimura et al., 2003; Megarbane et al., 2004), and identified heterozygous mutations in all ...