Fraser syndrome
Incidence
About 15% of cases were born to consanguineous parents, the transmission of the syndrome being autosomal recessive. As a whole about 150 affected patients have been described in the literature. Twenty-five percent of affected babies are stillborn. An additional 20% die before age one (usually secondary to renal or laryngeal defects).
Clinical Characteristics
Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos (absence of palpebral fissures with severe microphthalmia or anophthalmia), syndactyly, urogental anomalies, and with absent or malformed lacrimal ducts. Several other malformations were described in the frame of this syndrome: middle and outer ear malformations; high-arched palate; cleavage along the midplane of nares and tongue; hypertelorism; laryngeal stenosis; wide separation of symphysis pubis; displacement of umbilicus and nipples; mesenterium commune; absent or multicystic kidneys; fusion of labia and enlargement of clitoris; bicornuate uterus, and malformed Fallopian tubes in girls, undescended testes and small penis with hypospadias in boys. Most patients have no intellectual deficit, but a set of severe handicaps. As a whole about 150 affected patients have been described in the literature. The two cardinal signs are cryptophthalmos, present in 93% of cases, and syndactyly, present in 54% of cases. Twenty-five per cent of affected infants are stillborn, while 20 % die before the age of 1 year, because or renal or laryngeals anomalies. If these anomalies are not present, the life expectancy is almost normal. About 15% of cases were born to consanguineous parents, the transmission of the syndrome being autosomal recessive. Ultrasonographic diagnosis of the Fraser syndrome is feasible at 18 weeks' gestation. It could be made if 2 of the following signs are present: microphthalmia, syndactyly, enlarged echogenic lungs, and oligohydramnios. The gene of the Fraser syndrome was located recently to 4q21. At least 5 mutations were identified in the FRAS1 gene, which encodes a putative extracellular matrix protein.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
It is a clinical diagnosis. The gene of the Fraser syndrome was located recently to 4q21. At least 5 mutations were identified in the FRAS1 gene, which encodes a putative extracellular matrix protein. Ultrasonographic diagnosis of the Fraser syndrome is feasible at 18 weeks' gestation. It could be made if 2 of the following signs are present: microphthalmia, syndactyly, enlarged echogenic lungs, and oligohydramnios.