An individual with Smith-Magenis syndrome may have many of the following physical characteristics or only a select few. There is a wide range of physical characteristics in Smith-Magenis syndrome.
Common facial featuresin Smith-Magenis syndromeinclude;
- Brachycephaly (flat head shape)
- Heavy brows with a prominent forehead
- A broad face
- Mid-face hypoplasia (when the centre of the face develops more slowly than the eyes, forehead and jaw)
- Broad nasal bridge
- Downturned corners of the mouth
- Upward slanting eyes
- A heavy jaw
The facial appearance of people with Smith-Magenis syndrome changes with age; in infancy it is described as ‘doll like’ or cherubic but it is described as coarsening with age.
Other physical features include short, broad hands, short stature and a hoarse, deep voice.
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FAQs
Most people with Smith-Magenis syndrome have a broad, square-shaped face with deep-set eyes, full cheeks, and a prominent lower jaw. The middle of the face and the bridge of the nose often appear flattened. The mouth tends to turn downward with a full, outward-curving upper lip.
What are the facial features of a baby with Smith-Magenis syndrome? ›
The eyes slant upwards and appear close set and deep set. The nose has a depressed root and, in the young child, a scooped bridge. With time, the bridge becomes more ski jump shaped. The height of the nose is markedly reduced while the nasal base is broad and the tip of the nose is full.
What is the life expectancy of a person with Smith-Magenis syndrome? ›
What is the life expectancy of individuals with SMS? As it is a relatively 'new' syndrome, there isn't a detailed knowledge of the ' average' life expectancy. However, it is known that there was an adult with SMS who lived until she was 88 years old, and there are several adults with SMS in their 40s and 50s.
Is Smith-Magenis syndrome a form of autism? ›
Smith-Magenis syndrome is a rare condition. It occurs in 1 in 15 000-25 000 people. Children with Smith-Magenis syndrome are often also diagnosed with autism, attention deficit hyperactivity disorder, obsessive compulsive disorder and mood disorders.
What is the IQ of Smith-Magenis syndrome? ›
It has been suggested in the literature that all affected individuals have learning disabilities (IQ<70), with the majority in the IQ range of 40 to 50 (de Rijk-van Andel et al.
What are the physical features of Smith-Magenis? ›
Most people with Smith-Magenis syndrome have a broad, square-shaped face with deep-set eyes, full cheeks, and a prominent lower jaw. The middle of the face and the bridge of the nose often appear flattened. The mouth tends to turn downward with a full, outward-curving upper lip.
What are the symptoms of Smith-Magenis syndrome? ›
Common symptoms include distinctive facial features, skeletal malformations, varying degrees of intellectual disability, speech and motor delays, sleep disturbances, and self-injurious or attention-seeking behaviors. The specific symptoms present in each patients can vary dramatically from one individual to another.
What is the long-term outlook for a child with Smith-Magenis syndrome? ›
What can I expect if my child has Smith-Magenis syndrome? The prognosis for Smith-Magenis syndrome is dependent on the severity of your child's symptoms. Some people diagnosed with the condition have a normal life span and can live semi-independently with limited support from their family, friends and caregivers.
What are the sleep disturbances and behavior in Smith-Magenis syndrome? ›
In comparison to other neurodevelopmental disorders, SMS patients have significantly higher levels of sleep disordered breathing, daytime sleepiness/drowsiness, severe night waking, and severe early morning waking.
What syndrome is mistaken for autism? ›
There are other brain disorders that mimic autism symptoms, like ADHD and anxiety disorders, including selective mutism. Autism can be misdiagnosed as another disorder with some shared symptoms.
At least one research study has suggested that individuals with Smith-Magenis syndrome may have relative strengths in long term memory, visual attention and reading; however, strengths in reading have not been supported by all research studies.
Is Smith-Magenis syndrome more common in one ethnicity? ›
Smith-Magenis syndrome (SMS) has an estimated prevalence of 1/15,000-25,000 and has been identified worldwide in all ethnic groups, but is probably underdiagnosed. Males and females are affected equally.
Is Smith-Magenis syndrome a disability? ›
Aim: Smith–Magenis syndrome (SMS) is a rare genetic neurodevelopmental disorder caused by a 17p11. 2 deletion or pathogenic variant in the RAI1 gene. SMS is associated with developmental delay, intellectual disability (ID), and major sleep and behavioral disturbances.
What are the features of facial syndrome? ›
Though there are a variety of presentations and phenotypes of velocardiofacial syndrome, a long narrow face with a tubular nose, thin palpebral fissures, and a small mouth are present in more than 90 percent of cases.
What syndrome has wide set eyes? ›
Noonan syndrome may include these features: Eyes are wide-set, slant down and have droopy lids. Eyes may be pale blue or green. Ears are set low and look like they're tipped backward.
What is a flat nose bridge and wide set eyes? ›
Pallister W syndrome is apparent at birth. It is characterized by widely spaced eyes (hypertelorism) with downward slanting eyelid folds (palpebral fissures), a broad flat nasal bridge, a broad tip of the nose, a broad flat jaw, central clefting of the palate or upper lip, seizures, and mental retardation.
What are the features of Smith Kingsmore syndrome? ›
Smith-Kingsmore syndrome is a neurological disorder characterized by a head that is larger than normal (macrocephaly ), intellectual disability, and seizures. In some people with this condition, the ability to speak is delayed or never develops.
