Fuhrmann syndrome

Definition:

Fuhrmann syndrome is a non-lethal limb malformation disorder with various degrees of limb aplasia/hypoplasia and joint dysplasia. Major manifestations include hypoplasia of the pelvis, aplasia or hypoplasia of fibulae, severe bowing of femora, absence of nails, and polydactyly.

References:

[1]. A H Lipson, et al. Fuhrmann syndrome of right-angle bowed femora, absence of fibulae and digital anomalies: two further cases. Am J Med Genet. 1991 Nov 1;41(2):176-9. [Content Brief]

[2]. C G Woods, et al. Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome. Am J Hum Genet. 2006 Aug;79(2):402-8. [Content Brief]

[3]. W Fuhrmann, et al. Poly-, syn- and oligodactylyl, aplasia or hypoplasia of fibula, hypoplasia of pelvis and bowing of femora in three sibs--a new autosomal recessive syndrome. Eur J Pediatr. 1980 Mar;133(2):123-9. [Content Brief]

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