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Up to: Cardiogenetic disease · Congenital nervous system disorder · Multiple congenital anomalies/dysmorphic syndrome-intellectual disability · Syndromic craniosynostosis · Autosomal dominant syndromic intellectual disability
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described.
This condition has no sub-types.