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Start free with EleplanEmanuel syndrome
ORPHA:96170Malformation syndrome
Also called Der(22)t(11;22) syndrome · Supernumerary der(22) syndrome
What it is
A constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities.
Key facts
- Age of onset
- Antenatal, Neonatal
- Classified as
- Malformation syndrome
Signs and symptoms
Common30–79%
46- Aortic valve stenosis
- Broad jaw
- Cerebral atrophy
- Congenital hip dislocation
- Constipation
- Cryptorchidism
- Deeply set eye
- Delayed eruption of teeth
- Delayed speech and language development
- Dental crowding
- Dysphagia
- Ectopic anus
- Failure to thrive
- Feeding difficulties
- Gastroesophageal reflux
- Generalized hypotonia
- Growth delay
- Hearing impairment
- High palate
- Hooded eyelid
- Hypogonadism
- Infertility
- Intellectual disability
- Kyphoscoliosis
- Long philtrum
- Low hanging columella
- Low-set ears
- Low-set nipples
- Macrotia
- Micrognathia
- Micropenis
- Myopia
- Preauricular pit
- Preauricular skin tag
- Pulmonic stenosis
- Recurrent infections
- Recurrent otitis media
- Recurrent respiratory infections
- Scoliosis
- Seizure
- Single umbilical artery
- Strabismus
- Supernumerary ribs
- Tooth malposition
- Truncus arteriosus
- Upslanted palpebral fissure
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
ICD-10 codes
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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