This condition has been associated with mutations in the Tonsoku-like, DNA repair protein (TONSL) gene. This gene is located on the long arm of chromosome 8 (8q24.3). This gene is also known as NFKBIL2.
Sponastrime dysplasia
Acromicric dysplasia
Thanatophoric dysplasia
Lethal midline granuloma
Boomerang dysplasia
Congenital lip pit
Diastrophic dysplasia
Skin tag