Catel-Manzke syndrome (CATMANS)

What is Catel-Manzke syndrome (CATMANS)?

This rare disease is a genetic condition that was first identified in 1961.

There are currently 33 cases of the syndrome recorded globally, to date.

The syndrome presents with unique facial features, anomalies of the digits (the fingers specifically), and features of the Pierre Robin sequence (cleft lip, small jaw, tongue placed further back in the mouth).

What gene changes cause Catel-Manzke syndrome (CATMANS)?

The syndrome is the result of mutations in the TGDS. It is believed to be inherited in an autosomal recessive pattern but more research is ongoing into the exact causes of the syndrome as much is still yet unknown.

Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.

What are the main symptoms of Catel-Manzke syndrome (CATMANS)?

Index fingers locked in a bent position is a defining feature of the condition. As are features from the Pierre Robin sequence: a cleft palate, small jaw and a tongue positioned much further back in the mouth.

Unique facial features of the syndrome include a widely spaced eyes, full cheeks, low set ears, thin eyebrows, narrow nostrils, and short big toes.

Dislocation and looseness of the joints are also common symptoms. Along with a sunken breastbone and scoliosis.

As with the causes of the syndrome, research is ongoing into the exact symptoms of the syndrome and their prevalence.

How does someone get tested for Catel-Manzke syndrome (CATMANS)?

The initial testing for Catel-Manzke syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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