Autosomal recessive
Catel-Manzke syndrome is caused by changes in both copies of TGDS, a gene involved in making sugar building blocks needed for cartilage and skeletal development.
Signs and symptoms
The defining features are Pierre Robin sequence (a small lower jaw) and an extra bone at the base of the index finger, which makes the finger bend sideways. Less often there are heart defects, short stature, or other finger and toe differences.
What a diagnosis changes
Early airway and feeding support and hand assessment may be needed, and heart checks may be needed given the reported heart defects. Genetic counselling is recommended; parents are usually carriers, and carrier testing can be offered to relatives.
Genes analysed
Also known as
CATMANS; hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome; index finger anomaly-Pierre Robin syndrome; micrognathia digital syndrome; Palatodigital syndrome Catel-Manzke type; Pierre Robin sequence-hyperphalangy-clinodactyly syndrome; Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome
