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Table 2 Differential characteristics of three congenital diseases associated with PLE

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

  1. Abbreviation: PLE Protein-losing enteropathy