Fryns Syndrome synonyms

Fryns Syndrome, also known as Fryns-Aftimos Syndrome, is a rare genetic disorder characterized by a variety of physical and developmental abnormalities. It was first described by Fryns and Aftimos in 1979, hence the name. This syndrome is primarily associated with prenatal and postnatal growth retardation, craniofacial anomalies, and multiple organ malformations.

Synonyms

While Fryns Syndrome is the most commonly used term, it is worth noting that this condition is also referred to by several other names:

• Multiple Pterygium Syndrome, Fryns Type


• Fryns Anophthalmia Syndrome


• Fryns Cardiomyopathy Syndrome


• Fryns Lethal Multiple Pterygium Syndrome


• Fryns Polydactyly Syndrome


• Fryns Renal Aplasia Syndrome

Clinical Features

Fryns Syndrome is characterized by a wide range of clinical features, which may vary in severity and presentation among affected individuals. Some of the most common features include:

• Growth Retardation: Prenatal and postnatal growth deficiency is a hallmark of Fryns Syndrome. Affected individuals often have low birth weight and fail to thrive.


• Craniofacial Anomalies: Facial dysmorphism is frequently observed, including a small head (microcephaly), widely spaced eyes (hypertelorism), a flat nasal bridge, a small jaw (micrognathia), and malformed ears.


• Multiple Organ Malformations: Various organ systems can be affected, leading to abnormalities such as heart defects, lung hypoplasia, diaphragmatic hernia, genitourinary anomalies, skeletal abnormalities, and central nervous system defects.


• Pterygium: This refers to webbing or fusion of the skin between certain joints, particularly in the elbows, knees, and fingers. It is a characteristic feature of Fryns Syndrome.


• Other Features: Additional findings may include polydactyly (extra fingers or toes), cleft lip and/or palate, cryptorchidism (undescended testicles), and developmental delay.

Genetics and Prognosis

Fryns Syndrome is believed to have an autosomal recessive pattern of inheritance, meaning that both parents must carry a copy of the mutated gene for their child to be affected. The specific genetic cause is not yet fully understood, but several genes have been implicated in the development of this syndrome.

The prognosis for individuals with Fryns Syndrome is generally poor, with a high mortality rate in the neonatal period. The severity of the condition and associated complications can vary, and supportive care is typically provided to manage the various medical issues that arise.