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

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