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Start free with EleplanCHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome
ORPHA:692193Malformation syndrome
What it is
A rare malformation syndrome characterized by global developmental delay with intellectual disability, speech delay, hypotonia, neurobehavioral symptoms including autism spectrum disorder, repetitive behaviors, attention deficit hyperactivity disorder, and sleep abnormalities. Dysmorphic facial features may include microcephaly (or sometimes macrocephaly), a round face, a flat head with a shortened forehead, hypertelorism, upslanted palpebral fissures, bulbous nose, wide nasal bridge, short philtrum, tented upper lip, and dental abnormalities (most commonly retained primary teeth). Additional clinical features can include recurrent infections, cyclic vomiting syndrome, seizures, and nonspecific congenital malformations.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Childhood, Infancy
- Inheritance
- Autosomal dominant
- 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.
Gene
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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