Malan syndrome
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Clinical Features
- tall stature
- stereotypical craniofacial features, such as tall forehead, long or triangular face, deeply set eyes, down-slanting eyes, low set ears, small mouth that is often held open, thin upper lip, dental crowding
- intellectual disability- ranging from mild to severe
- macrocephaly (large head circumference)
- hypotonia (low muscle tone)
- vision impairment- strabismus, optic nerve atrophy, optic nerve hypoplasia, limited fields of vision, cortical visual impairment (CVI), lack of depth perception
- hearing impairment
- speech delay/inability to speak
- delayed gross and fine motor skills
- enlarged aorta- the main blood vessel that carries blood from the heart to the rest of the body
- structural abnormalities in the brain, such as enlarged ventricles and underdeveloped corpus callosum
- chiari malformation (brain tissue protrudes into spinal canal)
- seizures or EEG abnormalities
- skeletal anomalies, such as advanced bone age, scoliosis, sternum malformations
- joint hypermobility (increase in the range of movement of which a joint is capable)
- autistic-like traits
- behavioral challenges- anxiety and mood swings
