Question: What is (are) Fryns syndrome ?
Answer: Fryns syndrome is a condition that affects the development of many parts of the body. Signs and symptoms vary widely among affected individuals. Many affected individuals have a defect in the diaphragm muscle such as a congenital diaphragmatic hernia (a hole in the diaphragm present at birth). This may allow the stomach and intestines to move into the chest, which can result in pulmonary hypoplasia (underdevelopment of the lungs). Other signs and symptoms may include abnormalities of the fingers and toes; distinctive facial features; severe developmental delay and intellectual disability; and abnormalities of the brain, cardiovascular system, gastrointestinal system, kidneys, and genitalia. Most affected individuals die before birth or in early infancy. The cause of the condition is not known, but it is thought to be genetic and appears to be inherited in an autosomal recessive manner.
Source: GARD

Question: What are the symptoms of Fryns syndrome ?
Answer: What are the signs and symptoms of Fryns syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fryns syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anonychia 90% Aplasia/Hypoplasia of the lungs 90% Aplasia/Hypoplasia of the nipples 90% Broad forehead 90% Cognitive impairment 90% Congenital diaphragmatic hernia 90% Long philtrum 90% Low-set, posteriorly rotated ears 90% Multicystic kidney dysplasia 90% Short neck 90% Tented upper lip vermilion 90% Abnormality of the cardiac septa 50% Anteverted nares 50% Aplasia/Hypoplasia of the corpus callosum 50% Cerebral cortical atrophy 50% Cleft palate 50% Clinodactyly of the 5th finger 50% Coarse facial features 50% Cryptorchidism 50% Hypertelorism 50% Median cleft lip 50% Non-midline cleft lip 50% Opacification of the corneal stroma 50% Polyhydramnios 50% Seizures 50% Short distal phalanx of finger 50% Tetralogy of Fallot 50% Thickened nuchal skin fold 50% Wide mouth 50% Abnormality of female internal genitalia 7.5% Abnormality of the aorta 7.5% Aganglionic megacolon 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Dandy-Walker malformation 7.5% Displacement of the external urethral meatus 7.5% Duodenal stenosis 7.5% Ectopic anus 7.5% Intestinal malrotation 7.5% Narrow chest 7.5% Omphalocele 7.5% Urogenital fistula 7.5% Vesicoureteral reflux 7.5% Abnormality of the helix - Absent left hemidiaphragm - Agenesis of corpus callosum - Anal atresia - Arrhinencephaly - Atria septal defect - Autosomal recessive inheritance - Bicornuate uterus - Bifid scrotum - Blepharophimosis - Broad ribs - Camptodactyly - Chylothorax - Cleft upper lip - Duodenal atresia - Ectopic pancreatic tissue - Esophageal atresia - Facial hirsutism - Hydronephrosis - Hypoplasia of olfactory tract - Hypoplasia of the optic tract - Hypospadias - Intellectual disability - Joint contracture of the hand - Large for gestational age - Meckel diverticulum - Microphthalmia - Microretrognathia - Polysplenia - Prominent fingertip pads - Proximal placement of thumb - Pulmonary hypoplasia - Renal agenesis - Renal cyst - Rocker bottom foot - Shawl scrotum - Short thumb - Single transverse palmar crease - Small nail - Stillbirth - Thin ribs - Thoracic hypoplasia - Ureteral duplication - Ventricular septal defect - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD

Question: Is Fryns syndrome inherited ?
Answer: How is Fryns syndrome inherited? Although the exact cause of Fryns syndrome is not currently known (and no disease-causing gene has yet been identified), it is thought to be genetic because it tends to "run in families" and has features common to other genetic disorders. It appears to be inherited in an autosomal recessive manner. This means that both copies of the disease-causing gene in each cell of the body (one copy inherited from each parent) have mutations. The parents of an affected individual are referred to as carriers, who typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
Source: GARD