Goeminne syndrome G24.-

Ernst Luc Goemmine, Belgian internist

Rare malformation syndrome characterized by the combined occurrence of torticollis, urogenital malformations, skin anomalies, and dysplasia of the kidneys. Furthermore, there is a tendency to keloid formation.

Prevalence < 1: 1,000,000.

The disease is inherited in an x-linked dominant manner. Females are less severely affected than males. Zuffardi and Fraccaro (1982) mapped the locus for this syndrome to Xq28, distal to G6PD (305900).

The following symptoms are characteristic:

• Congenital torticollis
• Urogenital malformations (e.g. cryptorchidism)
• Skin anomalies (e.g. melanocytic nevi, keloids)
• Kidney dysplasia (e.g. chronic pyelonephritis)
• Other possible symptoms include:
• Mental retardation
• Anomalies of the musculoskeletal system
• Varicose veins
• Tendency to keloid formation

Causal therapy of the disease are not known.