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Start free with EleplanMowat-Wilson syndrome due to monosomy 2q22
ORPHA:261537Etiological subtype
Also called Hirschsprung disease and intellectual disability due to 2q22 microdeletion · Hirschsprung disease and intellectual disability due to del(2)(q22) · Hirschsprung disease and intellectual disability due to monosomy 2q22 · Mowat-Wilson syndrome due to 2q22 microdeletion · Mowat-Wilson syndrome due to del(2)q(22)
What it is
Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.
Key facts
- Age of onset
- Antenatal, Neonatal
- Classified as
- Etiological subtype
Recorded for the broader condition
- Prevalence
- 1-9 / 100 000 (at birth, Europe)Mowat-Wilson syndrome
- Inheritance
- Autosomal dominantMowat-Wilson syndrome
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Signs and symptoms
Very common80–99%
5Common30–79%
41- Abnormal corpus callosum morphology
- Abnormal heart morphology
- Abnormal hippocampus morphology
- Abnormality of the genitourinary system
- Abnormal repetitive mannerisms
- Aganglionic megacolon
- Agenesis of corpus callosum
- Atypical absence seizure
- Bowel incontinence
- Broad-based gait
- Broad eyebrow
- Convex nasal ridge
- Cryptorchidism
- Deeply set eye
- Delayed ability to walk
- Depressed nasal tip
- EEG abnormality
- Failure to thrive
- Floppy infant
- Focal-onset seizure
- Hypoplasia of the corpus callosum
- Hypospadias
- Lateral ventricle dilatation
- Low hanging columella
- Mandibular prognathia
- Open mouth
- Pointed chin
- Poor fine motor coordination
- Posteriorly rotated ears
- Recurrent otitis media
- Secondary microcephaly
- Seizure
- Short philtrum
- Short stature
- Sleep abnormality
- Spasticity
- Telecanthus
- Thick lower lip vermilion
- Uplifted earlobe
- Urinary incontinence
- Wide nasal bridge
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.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
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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