Argons

Argonza is a rare hereditary disease characterized by developmental disorders of the face, skull and limbs. It was first described by the Spanish physician del Castillo in 1969, and is therefore also called del Castillo syndrome.

The main symptoms of Argonsa:

  1. Anomalies of the facial skeleton - hypoplasia of the midface, widely spaced eyes.

  2. Skull deformities - premature fusion of cranial sutures.

  3. Anomalies of the limbs - shortening of the metacarpal and metatarsal bones, syndactyly (fusion of the fingers).

  4. Delayed growth and mental development.

  5. Problems with vision and hearing.

Argonsa is caused by mutations in the FLNA gene on the X chromosome. The disease is inherited in an X-linked recessive manner and occurs almost exclusively in girls.

Treatment of Argonsa involves eliminating developmental abnormalities through surgery and correcting growth retardation with hormonal drugs. The prognosis for life and health with argon is generally unfavorable.