Similar Diseases
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Sanjad-Sakati syndrome – Genetics
This disorder is caused by an abnormality of the TBCE gene, the locus for which is on Chromosome 1q42.3. The locus is a 230 kb region of gene with identified deletions and mutations in affected individuals. There are rare cases of the disorder not being due to a TBCE gene abnormality.
Sanjad-Sakati syndrome – Presentation | Other features
Other features include:
- Stunting
- Small hands and feet with long, tapering fingers and clinodactyly
- Dental anomalies in the form of malalignment and malocclusion
In another study of six patients, the patients were investigated further. They were found to have low levels of IGF-1 and markedly retarded bone age.