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Start free with EleplanGlobal developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome
ORPHA:697067Malformation syndrome
Also called BCAS3-related neurodevelopmental disorder · Hengel-Maroofian-Schols syndrome
What it is
A rare multiple congenital anomalies/dysmorphic syndrome characterized by infancy/early childhood-onset severe global developmental delay (manifests mostly by delayed sitting and walking/inability to walk), severe intellectual disability with minimal or no speech, pyramidal signs (including lower limb spasticity, hyperreflexia, spastic gait and feet contractures), short stature, microcephaly and dysmorphic facial features (including a long face, strabismus, short philtrum, open mouth, full lips or everted lower lip and teeth abnormalities). Seizures and dystonic/dyskinetic movements may also be present in some patients.
Key facts
- Age of onset
- Childhood, Infancy
- Inheritance
- Autosomal recessive
- Classified as
- Malformation syndrome
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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