Fryns syndrome (FS) is a rare congenital disorder which can have significant phenotypic variability but is primarily characterized 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
- cranio-facial features
- dysmorphic facial features (coarse facies)
- facial hair growth or facial hirsuitism
- corneal clouding 8
- long philtrum
- broad and flat nasal bridge
- cleft lip and/or palate
- microretrognathia or micrognathia
- low-set ears
- intracranial anomalies
- diaphragmatic or thoracic defects
- limb anomalies
It is thought to carry an autosomal recessive inheritance.
These can also be sometimes be considered as part of the clinical spectrum listed above
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.
Treatment and prognosis
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.
History and etymology
The syndrome was first described by J P Fryns at al. in 1979 2.
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