Features include head (lymphedematous
flat facies, retrognathia, atresia of ear canal, low-set ears, hearing loss,
hypertelorism, flat nasal bridge, epicanthal folds, glaucoma, small mouth,
narrow palate, flat upper lip, oligodontia, conical crowns, delayed
eruptions), skeleton (horizontal clavicles, pectus excavatum, coronal
craniosynostosis, scoliosis, syndactyly, camptodactyly, small hands and
feet, talipes equinovarus), extremities (lymphedema), skin
(alopecia, frontal upsweep, heavy eyebrows, hirsutism), gastrointestinal
(GI) tract (lymphangiectasia of the small intestine, rectal
prolapse, umbilical hernia), urogenital system (genital lymphedema,
ectopic or horseshoe kidney, vesicoureteral reflux, cryptorchism), central
nervous system (CNS) (seizures, conductive hearing loss, mental
retardation, focal parietal pachygyria, hyperactivity), and heart
(ventricular or atrial septal defect, pericardial lymphangiectasia,
pericardial effusions). Lymphangiectasia may affect pleura and thyroid.
Infection of oozing lymph may cause erysipelas.