Malan syndrome is a multiple congenital anomalies syndrome. It is a rare genetic disorder that occurs because of change in the NFIX gene (nuclear factor I/X (CCAAT-binding transcription factor)) located on the short arm (“p” arm) of chromosome 19 at position 13.2. Its prevalence is less than 1 per million.
What is Malan Syndrome?
Malan syndrome is a genetic, non-life threatening disorder caused by a mutation in chromosome 19.
Some Clinical features of Malan syndrome:
- tall stature
- stereotypical craniofacial features, such as tall forehead, long or triangular face, deeply set eyes, down-slanting eyes, low set ears, a 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
- 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
Treatment options for Malan Syndrome
While there is no cure for Malan Syndrome, there are treatments that can focus on specific symptoms.
Treatment options include:
- Behavioral or occupational therapy
- Speech therapy
- Medications to manage ADHD, irritability, or aggressiveness
- Hearing aids for hearing loss
- Obtaining a functional as well as acuity vision exam
- Glasses to correct vision problems
As there are co-morbid disorders and medical problems related to Sotos syndrome, other treatments may be necessary. Your child’s medical team will monitor and advise if additional screenings may be necessary.
As with many disorders, there are always brands and individuals touting the next “cure.” At this time, there is no cure and the best treatments/supplements/medication are those advised by your child’s doctor.
A special diet isn’t required for Malan syndrome, but it’s important that all children have a well-balanced and healthy diet.
Anxiety & Sleep
Anxiety causes sleeping problems, and research suggests sleep deprivation can cause an anxiety disorder. It is a vicious cycle for anyone to cope with, especially children.
Having a set bedtime routine and sleep schedule can go a long way to help. Make sure to create a routine that works well for your child and can be easily kept. This article on getting quality sleep for children is also a great resource.
Children with disabilities are more prone to bullying. Reports show that one out of every five students reports being bullied in some form by the time they reach eighteen.
If you notice that your school-aged child has become more anxious, depressed, or behaving differently, bullying may be the culprit. If your child is unable to inform you of possible bullying, make sure to touch base with their teacher.
Adults can lead fulfilling lives with Malan syndrome. Every child is different and so are their abilities. For more amazing information and support, please check out https://www.facebook.com/MalanSyndromeFoundation/