Cerebro-Costo-Mandibular Syndrome (CCMS) is a rare disorder with a number of skeletal anomalies.
Synonyms: Smith-Theiler-Schachenmann syndrome
Implicated gene: SNRPB
Inheritance: variable, Some sporadic, some autosomal recessive, some autosomal dominant.
Clinical features:
(1) variable intellectual disability
(2) elements of the Pierre Robin sequence (micrognathia and retrognathia, cleft palate, glossoptosis)
(3) rib dysplasia with costovertebral defects and gaps within ribs
Additional findings may include:
(1) other skeletal defects
(2) abnormal tracheal cartilage
(3) high arch palate
(4) redundant skin
