The clinical features of this disease include:
- Short stature
- Low weight
- Microcephaly
- Intellectual disability
- Facial dysmorphisms:
- Triangular face
- Low-set ears
- Deep-set eyes
- Sparse eyebrows
- Broad nose
- Wide nasal bridge
- Flat nasal bridge
- Macrostomia
- Short philtrum
- Full lips (some patients)
- Wide mouth
- Widely spaced teeth
- Malar hypoplasia
- Narrow and short palpebral fissure
- Strabismus (some patients)
- Frontal bossing (some patient)
- Telecanthus with mild hypertelorism (one patient)
- Moderate developmental delay
- Borderline anemia
Other (some patients):
- Scoliosis
- Kyphoscoliosis
- Mild epiphyseal changes in the proximal phalanges
- Cutis marmorata
- Thickened skin over the hands and feet
- Abnormally set toes/fingers
- Hypermobility of distal limbs
- Self-mutilation of hands
- Anxiety
- Stereotypic behavior including hand wringing
- Bilateral short Achilles’ tendon
- Axial hypotonia
- Unsteady gait
- Retractile left testes (one patient)
- Small kidneys (one patient)
- Small hands with short distal phalanges (one patient)
- Mild left pulmonary artery stenosis (one patient)
- Mild insular and anterior frontal gyrus cortical thickening (one patient)
- Hypospadias (one patient)
Important note: The original paper reporting Alazami syndrome mentioned microcephalic primordial dwarfism as a feature. However, no other reported cases to date have documented microcephalic primordial dwarfism at the time of birth. The birth growth parameters may not have been accurately reported in the original paper, and as such it remains to be seen if primordial dwarfism is a genuine feature of the disease.