Fryns Syndrome is a rare disorder that can be diagnosed if certain clinical findings are found.
Inheritance: autosomal recessive
Gene mutated: not specified
Clinical findings:
(1) diaphragmatic defect (hernia, eventration, hypoplasia, agenesis)
(2) facial features (see below)
(3) distal digital hypoplasia (affecting nails or terminal phalanges)
(4) pulmonary hypoplasia
(5) associated anomalies (see below)
Facial features:
(1) coarse face
(2) ocular hypertelorism
(3) broad and flat nasal bridge
(4) thick nasal tip
(5) long philtrum
(6) low-set and poorly-formed ears
(7) micrognathia
(8) macrostomia
(9) tented upper lip
Associated anomalies:
(1) polyhydramnios
(2) cloudy cornea
(3) microphthalmia
(4) orofacial clefting
(5) brain malformation
(6) cardiovascular malformation
(7) renal dysplasia or renal cortical cysts
(8) gastrointestinal malformation
(9) genital malformation
