PRIMARY CARE
Recommendation 1
PT for motor difficulties, surgery for correction of internal/external abnormalities, education support services for intellectual support
10q22.3q23 microdeletion syndrome
Not Verified
Disease overview
Chromosomoal disorder. Partial autosomal monosomy caused by microdeletion leading to skeletal and developmental disorders
Common symptoms
Characteristic physical exam findings and neurological defects. Physical exam findings: mild facial dysmorphismmacrocephalyhypertelorism or hypotelorismdeep-set eyesupslanting or downslanting palpebral fissureslow-set earsflat nasal bridgesmooth philtrumthin upper lipcleft palate. Neurological Defects: Cerebellar and cardiac malformationspsychomotor development delayattention deficit hyperactivity disorderautism
WHEN TO SUSPECT
Recommendation 1
Genetic testing (FISH)
HOW TO TEST
Recommendation 1
Genetic testing (FISH)
TREATMENT
Recommendation 1
Supportive Treatment Only
FURTHER SUPPORT
Recommendation 1
N/A, NORD recommends Cleveland Clinic Center for Rare Diseases. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.
CLINICAL TRIALS
Recommendation 1
None is available, but can sign up to be notified when one becomes available
Sources
No data available
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