Fryns syndrome

Fryns syndrome (FS) is a rare congenital disorder which can have significant phenotypic variability but is primarily characterised by cranio-facial anomalies, diarphagmatic defects and distal limb anomalies.

Incidence is estimated at 1:15,000 live births.

The clinical spectrum is wide and reported clinical features include

Genetics

It is thought to carry an autosomal recessive inheritance.

Associations

These can also be sometimes be considered as part of the clinical spectrum listed above

Antenatal ultrasound

Some of the above clinical features may be evident on antenatal ultrasound. First trimester ultrasound may show a cystic hygroma as an early (but non specific) feature.

The prognosis is generally poor with a majority of cases being stillborn or not surviving beyond the early neonatal period. A lot of the mortality can be due to development of pulmonary hypoplasia. In those who survive severe developmental delay and intellectual disability are common.

The syndrome was first described by J. P. Fryns at al in 1979 2.

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Article Information

rID: 13451
Synonyms or Alternate Spellings:
  • Fryns' syndrome
  • Fryns syndrome (FS)

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