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

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