Alazami syndrome
A rare autosomal recessive disorder with dwarfism, intellectual disability, and facial changes.
Alazami syndrome is a rare autosomal recessive genetic disorder marked by short stature, severe developmental delays, speech delay, intellectual disability, distinctive facial features, and skeletal deformities. Facial dysmorphisms include underdeveloped cheekbones, deep-set eyes, broad nose, and macrostomia. Skeletal issues involve scoliosis and mild epiphyseal changes in the proximal phalanges, without severe hip dislocation. Some patients exhibit ataxia, leading to a clumsy gait with frequent trips or falls.
Quick Facts
- Inheritance
- Autosomal recessive
- Gene involved
- LARP7 (La ribonucleoprotein 7)
- Chromosomal location
- 4q25
- First described by
- Alazami et al
- Key features
- Primordial dwarfism
- intellectual disability
- facial dysmorphisms
- scoliosis
- Associated findings
- Reduced telomerase activity
- short lymphocyte telomeres
- tumor susceptibility
Facts from the source article.
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