FaCD Online Syndrome Fact Sheet

Last updated: 05 Aug 2008

Name: Torticollis, Keloids, Cryptorchism and Renal Dysplasia

Synonym: Goeminne syndrome, TKCR syndrome

Mode of Inheritance: XLD

Genes

TKCR#, mapped to Xq28

Tumor features (possible)

skin cancer, basal cell

Non-tumor features

cryptorchism
keloid
nevi
pyelonephritis
renal dysplasia
torticollis

Comment

The rare disorder is inherited in an X-linked dominant way. Clinical hallmarks are the occurrence of torticollis, cryptorchism, pyelonephritis, keloids, cutaneous nevi and varicose veins. The keloids may develop spontaneously in puberty.[1,2]. In an affected male, a basocellular epithelioma was diagnosed at age 33.[1]

References

[1] Goeminne L. A new probably X-linked inherited syndrome: congenital muscular torticollis, multiple keloids cryptorchidism and renal dysplasia. Acta geneticae medicae et gemellologiae 1968; 17(3):439-67.
[2] Fryns JP, Gevers D. Goeminne syndrome (OMIM 314300): another male patient 30 years later. Genetic counseling 2003; 14(1):109-11.