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Start free with EleplanWAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
ORPHA:466943Malformation syndrome
Also called DESSH · Desanto-Shinawi syndrome
What it is
A rare, genetic, syndromic intellectual disability characterised by several dysmorphic features, hypotonia, developmental delay, intellectual disability, behavioral problems, visual and hearing abnormalities, constipation, and feeding difficulties. Common dysmorphic features include coarse facies, broad forehead, synophrys, bushy eyebrows, deep-set eyes, downslanting palpebral fissures, epicanthus, depressed nasal bridge, bulbous nasal tip, posteriorly rotated ears, full cheeks, thin upper lip, inverted nipples, and hirsutism. Behavioral problems tend to be dominated by ADHD, but anxiety, aggressive outbursts and autistic features may also present.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Childhood, Infancy
- Inheritance
- Autosomal dominant, Not applicable, Unknown
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
5Common30–79%
16- Abnormality of the outer ear
- Abnormality of vision
- Absent speech
- Anxiety
- Attention deficit hyperactivity disorder
- Constipation
- Delayed fine motor development
- Delayed gross motor development
- Delayed speech and language development
- Feeding difficulties
- Gastrointestinal dysmotility
- Oral motor hypotonia
- Seizure
- Sleep abnormality
- Square face
- Strabismus
Sometimes5–29%
37- Aggressive behavior
- Asthma
- Astigmatism
- Autistic behavior
- Brachydactyly
- Broad chin
- Broad nasal tip
- Bulbous nose
and 29 more in this range
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.
Genes reported in subtypes
Orphanet records this gene on 2 more specific entries under this disorder, not on this entry itself:
A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.
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.
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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