Lamb-Shaffer Syndrome
Lamb-Shaffer syndrome is a rare autosomal dominant condition. Less than 40 cases have been reported by 2018.
Signs and symptoms
Clinical features include
- Global developmental delay
- Significant speech delay
- Hypotonia
- Micrognathia
- Scoliosis
- Defects in motor function both fine and gross
- Optic atrophy
- Ocular motor apraxia
- Strabismus
- Frontal bossing
- Ear abnormalities
- Low nasal bridge
- Epicanthal folds
- Midline tongue groove
Genetics
This condition is caused by mutations in the SRY-related HMG-box (SOX5) gene. This gene encodes a protein in the family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate.
The gene is located on the short arm of chromosome 12 (12p12).
Pathogenesis
How this mutation causes the clinical picture is not currently clear.
Diagnosis
The diagnosis may be suspected on the basis of the constellation of clinical features. It is made by sequencing the SOX5 gene
Treatment
There is currently no curative treatment for this condition.Supportive management is all that is currently available.
Epidemiology
This is a rare condition with a prevalence of < 1/106. The total number of cases reported to date is <40.
History
This condition was first described by Lamb et al in 2012