Fryns-Aftimos syndrome

Classification	ICD-10: Q04.3; OMIM: 606155;
External resources	Orphanet: 94084;

Fryns-Aftimos syndrome is rare chromosomal condition and is associated with pachygyria, severe mental retardation, epilepsy and characteristic facial features. This syndrome has been seen in 30 unrelated people.^[1]

Presentation[edit | edit source]

Those who have diagnosed condition have differing degrees of the following:

dysmorphism
hypertelorism
metopic ridging of the skull
wide palpebral fissures
long downslanted palpebral fissures
congenital ptosis
broad nose
prominent nasal root
long philtrum
mild micrognathia
highly arched eyebrows.^[1]

Other less common features of this disorder are:

cleft lip and palate
ocular anomalies such as iris and/or retinal coloboma
microphthalmos
cortical dysplasia
pachygyria
subcortical band heterotopia^[1]

More serious cases may exhibit:

lissencephaly
microcephaly
hydronephrosis
intellectual deficiency
other brain anomalies
drug-resistant
movement limitations
kyphoscoliosis^[1]

Etiology[edit | edit source]

"BWS is a genetically heterogeneous disorder, caused by a heterozygous mutation in one of the 2 genes coding for ubiquitously expressed actins: ACTB, located to 7p22-p12 (BRWS1) and ACTG1 on 17q25.3 (BRWS2). All mutations are missense and probably act by a gain of function mechanism, as deletions of the same genes do not result in BWS phenotype."^[1]