OPITZ C SYNDROME

The striking feature of this syndrome is the trigonocephaly, produced by the cranial metopic suture (or synostosis). Therefore, this disease is also known as Opitz Trigonocephaly Syndrome.

Other characteristic features are the wide, flat nasal bridge with a short nose, hypertelorism, high arched palate, gum hypertrophy, strabismus, malformed fingers and toes and genitals abnormalities.

This is a very severe condition, being the most critical stage the two first years of life, on which there is a high mortality rate.

In general, children have a high degree of mental retardation, feeding difficulties and problems in motor development.

Although this syndrome was described by Dr. John M Opitz in 1969, the gene responsible for the disease are still unknown.

You can find more detailed information at the following links:

• OMIM

• ORPHANET

• GARD

VERY IMPORTANT

The data provided ONLY have an informative nature. The information must not be used for diagnosis or treatment under no circumstances and it does not mean to substitute the information given by your doctor.