Spondyloepimetaphyseal dysplasia, Aggrecan type
Alternate names[edit | edit source]
SEMD, Aggrecan type
Definition[edit | edit source]
Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.
Epidemiology[edit | edit source]
To date, three cases have been described, all originating from the same family.
Cause[edit | edit source]
The disease results from a missense mutation affecting the C-type lectin domain of aggrecan (AGC1 gene; chromosome 15) which regulates endochondral ossification.
Inheritance[edit | edit source]
[[File:Autorecessive.svg|thumb|right|Autosomal recessive inheritance, a 25% chance] Transmission is autosomal-recessive.
Signs and symptoms[edit | edit source]
- Facial features include midface hypoplasia with almost absent nasal cartilage, and relative prognathism and macrocephaly.
- Radiographic findings include irregular epiphyses of long bones with widened metaphyses, platyspondyly, multiple cervical-vertebral clefts and brachydactyly.
Clinical presentation[edit | edit source]
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Abnormality of the nail
- Absent nasal bridge(Missing nasal bridge)
- Barrel-shaped chest(Barrel chest)
- Brachydactyly(Short fingers or toes)
- Broad thumb(Broad thumbs)
- Joint laxity(Joint instability)
- Low-set, posteriorly rotated ears
- Lumbar hyperlordosis(Excessive inward curvature of lower spine)
- Mandibular prognathia(Big lower jaw)
- Mesomelia(Disproportionately short middle portion of limb)
- Midface retrusion(Decreased size of midface)
- Relative macrocephaly(Relatively large head)
- Rhizomelia(Disproportionately short upper portion of limb)
- Short neck(Decreased length of neck)
30%-79% of people have these symptoms
- Functional respiratory abnormality
- Hoarse voice(Hoarseness)
1%-4% of people have these symptoms
- Malar flattening(Zygomatic flattening)
- Short finger(Stubby finger)
Diagnosis[edit | edit source]
Treatment[edit | edit source]
NIH genetic and rare disease info[edit source]
Spondyloepimetaphyseal dysplasia, Aggrecan type is a rare disease.
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