Spondyloepimetaphyseal dysplasia, aggrecan type

General Information (adopted from Orphanet):

Synonyms, Signs: semd, aggrecan type
Number of Symptoms 17
OrphanetNr: 171866
OMIM Id: 612813
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: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0000303) Mandibular prognathia 3/3 [HPO:probinson] 19110214 IBIS 179 / 7739
2
 (HPO:0000272) Malar flattening 3/3 [HPO:probinson] 19110214 IBIS 277 / 7739
3
 (HPO:0005285) Absent nasal bridge 3/3 [HPO:probinson] 19110214 IBIS 2 / 7739
4
 (HPO:0004482) Relative macrocephaly 3/3 [HPO:probinson] 19110214 IBIS 44 / 7739
5
 (HPO:0000470) Short neck 3/3 [HPO:probinson] 19110214 IBIS 345 / 7739
6
 (HPO:0000358) Posteriorly rotated ears 3/3 [HPO:probinson] 19110214 IBIS 163 / 7739
7
 (HPO:0000369) Low-set ears 3/3 [HPO:probinson] 19110214 IBIS 372 / 7739
8
 (HPO:0003027) Mesomelia 3/3 [HPO:probinson] 19110214 IBIS 58 / 7739
9
 (HPO:0002938) Lumbar hyperlordosis 3/3 [HPO:probinson] 19110214 IBIS 73 / 7739
10
 (HPO:0011304) Broad thumb 3/3 [HPO:probinson] 19110214 IBIS 39 / 7739
11
 (HPO:0001552) Barrel-shaped chest 3/3 [HPO:probinson] 19110214 IBIS 31 / 7739
12
 (HPO:0002651) Spondyloepimetaphyseal dysplasia 19 / 7739
13
 (HPO:0008905) Rhizomelia 3/3 [HPO:probinson] 19110214 IBIS 85 / 7739
14
 (HPO:0009381) Short finger 3/3 [HPO:probinson] 19110214 IBIS 45 / 7739
15
 (HPO:0001388) Joint laxity 3/3 [HPO:probinson] 19110214 IBIS 117 / 7739
16
 (HPO:0001609) Hoarse voice 2/3 [HPO:probinson] 19110214 IBIS 34 / 7739
17
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Tompson et al. (2009) described a Mexican family in which 2 brothers and a sister had a newly recognized autosomal recessive form of spondyloepimetaphyseal dysplasia characterized by severe short stature and a novel constellation of radiographic findings. The ...
Molecular genetics OMIM In 3 sibs with SEMD, Tompson et al. (2009) identified homozygosity for a missense mutation in the ACAN gene (155760.0002) that affected the C-type lectin domain of the protein.