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:
Skeletal features:
On X ray:
Other associated conditions:
These are variably present [4]
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]
This is not understood. It appears that the TONSL gene product is involved in genome repair. [7]
This can be suspected when the usual facial and skeletal features are present. It is confirmed by sequencing the TONSL gene.[ citation needed]
Short limbed dwarfism syndrome in association with immunodeficiency.[ citation needed]
There is no specific treatment for this condition. Management is supportive.[ citation needed]
This condition is considered to be rare with less than 100 cases reported in the literature.[ citation needed]
This condition was first described in 1983. [8]
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:
Skeletal features:
On X ray:
Other associated conditions:
These are variably present [4]
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]
This is not understood. It appears that the TONSL gene product is involved in genome repair. [7]
This can be suspected when the usual facial and skeletal features are present. It is confirmed by sequencing the TONSL gene.[ citation needed]
Short limbed dwarfism syndrome in association with immunodeficiency.[ citation needed]
There is no specific treatment for this condition. Management is supportive.[ citation needed]
This condition is considered to be rare with less than 100 cases reported in the literature.[ citation needed]
This condition was first described in 1983. [8]