Condition Info - BotMed Application

ConditionName

Smith-Magenis syndrome

ConditionDescription

Symptoms

Physical characteristics:
facial features that include a broad, square face with deep-set eyes, full cheeks, a prominent lower jaw, a flattened bridge of the nose, a downturned mouth, and eyes looking in different directions (strabismus);
low muscle tone;
short stature;
curved spine (scoliosis);
hoarse voice;
myopia (short-sightedness);
flat feet;

Cognitive signs:
developmental delay;
mild to moderate intellectual disability;
speech delay;

Behavioural signs:
sleep problems – for example, they might sleep during the day and be awake at night;
temper tantrums and aggression problems;
anxiety;
attention difficulties;
a tendency to injure themselves deliberately;
a tendency to hug themselves repeatedly;
reduced sensitivity to pain and temperature;
eating difficulties, with a preference for soft foods.

Medical concerns:
ear abnormalities (sometimes leading to hearing loss);
heart and kidney defects;
retinal detachment.

PhysicalFindings

ClinicalTests

RiskFactors

IsRedFlag

IsNPLEX

Consequence

ProgressionFromCondition

TreatmentOptions

PharmOptions

WebLink

https://rarediseases.info.nih.gov/diseases/8197/smith-magenis-syndrome