This rare autosomal dominant condition is characterised by distinctive craniofacial features including Pierre Robin sequence, short stature with minor skeletal anomalies, most distinctively abnormal rib pair number, and cardiac malformations or arrhythmia. The clinical features of this condition can be observed in individuals with whole gene deletions (involving chromosome 20p12) or intragenic truncating variants of BMP2. Cognitive development is usually normal unless the chromosome 20p12 deletion involves additional genes beyond BMP2. All individuals with truncating BMP2 variants have normal intelligence.
BMP2