Blindness-Scoliosis-Arachnodactyly Syndrome
This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes.
Epidemiology
The syndrome has been described in four patients (three males and one female) from the same family.
Clinical description
The male patients presented with the complete phenotype while the female patient suffered only from blindness.
Etiology
No mutations were found in the FBN1, TGFBR1 and TGFBR2 genes which are associated with other syndromes presenting similar clinical findings (i.e. Marfan syndrome; see this term).
Genetic counseling
Transmission seems autosomal dominant.