From: A PTPN11 mutation in a woman with Noonan syndrome and protein-losing enteropathy
Disease | Genetic property | Causative genes | Morbidity | Pattern | Height (cm) | |
---|---|---|---|---|---|---|
M | F | |||||
Hennekam syndrome | Recessive inheritance | CCEB1, FAT4, ADAMTS3 | Rare< 50 cases/worldwide | Lymphangiogenesis can occur in many areas, the most common being the small intestine but also the kidney, chest, pericardium, thyroid gland and skin [39]. | 156.3 ± 11.3 | 155.3 ± 4.7 |
Turner syndrome | Allosomal inheritance | 45, X 46, X, i (Xq) Mosaicism | 1/1500–2500 | Infants with a 45,X karyotype are the most likely to have congenital lymphedema [40] | 141.3 ± 5.6 | |
Noonan syndrome | Autosomal dominant | PTPN11, SOS1, RAF1, KRAS, SHOC2, NRAS | 1/1000–1/2500 | Lymphangiogenesis restricted to pterygium and limbal lymphedema and often combined with cardiac disease. | 157.3 ± 7.4 | 146.8 ± 6.9 |