To analyze the clinical characteristics of Chinese primary congenital lymphoedema (PCL), also known as Milroy disease.

Through collection and diagnosis of a Chinese PCL family, the comprehensive pedigree and detailed clinical data were established. Its clinical data and relational references were analyzed.

11 cases in 4 generation of the 48 family members were affected in all, including 3 male and 8 female, The patients' ages were from 3 to 85 years, 10individuals onset from birth, and remained mildly affected throughout life. The nidus were as follows: 1case is on the bilateral lower limbs, 1 case is on the bilateral lower limb and the right upper limb, 1 case is on the left upper limb, 3 cases are on the right lower limb, 3 are cases on the left lower limb, 2 cases are bilateral feet back, 2 cases are over the knee joint, 1 case is simultaneous with right hand skin cancer, 1case is simultaneous with upslanting toenails of big toes of bilateral feet ; 2 cases are early healing.

Genetic analysis shows that the inheritance mode in this Chinese PCL family is autosomal dominant, which women were high incidence, diversity and the limitations of the nidus sites and more on the unilateral lower limbs and less on the upper limbs with skin cancer ; Further understanding of this disease and early clinical treatment would be helpful to improve the prognosis.