Sponastrime dysplasia
From Wikipedia, the free encyclopedia
| Sponastrime dysplasia | |
|---|---|
 | |
| This condition is inherited in an autosomal recessive manner. | |
| Specialty | Medical genetics |
| Causes | Mutations in the TONSL gene |
Sponastrime dysplasia is a rare condition characterised by facial and skeletal abnormalities.[1][2]
The main features of this condition are evident in skeleton and face.[3]
Facial features:
- Macrocephaly
- Frontal bossing
- Midface hypoplasia
- Depressed nasal root
- Small upturned nose
- Prognathism
Skeletal features:
- Shortened limbs (more pronounced in lower limbs)
- Short stature
- Progressive coxa vara
On X ray:
- Abnormal vertebral bodies (particularly in the lumbar region)
- Avascular necrosis of the capital femoral epiphyses
- Striated metaphyses
- Generalized mild osteoporosis
- Delayed ossification of the carpal bones
Other associated conditions:
These are variably present[4]
- Cataracts
- Hypogammaglobulinemia
- Intellectual disability
- Short dental roots
- Subglottic stenosis
- Tracheobronchomalacia
Genetics
This condition has been associated with mutations in the Tonsoku-like, DNA repair protein (TONSL) gene.[5][6] This gene is located on the long arm of chromosome 8 (8q24.3). This gene is also known as NFKBIL2.[citation needed]
Pathopysiology
This is not understood. It appears that the TONSL gene product is involved in genome repair.[7]
Diagnosis
This can be suspected when the usual facial and skeletal features are present. It is confirmed by sequencing the TONSL gene.[citation needed]
Differential diagnosis
Short limbed dwarfism syndrome in association with immunodeficiency.[citation needed]
Treatment
There is no specific treatment for this condition. Management is supportive.[citation needed]