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Start free with EleplanEctodermal dysplasia-intellectual disability-central nervous system malformation syndrome
ORPHA:1812Malformation syndrome
What it is
Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998.
Key facts
- Age of onset
- Antenatal, Neonatal
- Inheritance
- X-linked recessive
- Classified as
- Malformation syndrome
Recorded for the broader condition
- Prevalence
- 6-9 / 10 000Ectodermal dysplasia 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%
25- Abnormality of dental enamel
- Abnormality of immune system physiology
- Agenesis of corpus callosum
- Aplasia/Hypoplasia of the cerebellum
- Aplasia/Hypoplasia of the eyebrow
- Depressed nasal bridge
- Downslanted palpebral fissures
- Dry skin
- Feeding difficulties in infancy
- Fine hair
- Frontal bossing
- Gait disturbance
- Hydrocephalus
- Hypertelorism
- Hypohidrosis
- Hypoplasia of penis
- Hypoplasia of the zygomatic bone
- Intellectual disability, severe
- Low-set ears
- Macrocephaly
- Microdontia
- Retrognathia
- Short nose
- Thin skin
- Ventriculomegaly
Sometimes5–29%
14- Abnormal eyelid morphology
- Abnormal fibula morphology
- Aplastic/hypoplastic toenail
- Cleft palate
- Cryptorchidism
- Deeply set eye
- Epicanthus
- Hypothyroidism
and 6 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.
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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