Clinical features can concern all systems and
part of the bodies: head (micrognathia, midfacial hypoplasia, deepening of the
posterior cranial fossa, widely spaced mandible, large ears, blepharoptosis
strabismus, epicanthal folds, highly arched palate, occasional cleft palate,
premature tooth eruption), skeleton (thin ribs, short metacarpal and metatarsal
bones, drumstick distal phalanges, pes cavus, Madelung deformity, cubitus
valgus, deformed tibial condyles, hypoplastic and dislocated patellae,
faulty fusion of the epiphyses, scoliosis, osteoporosis), cardiovascular system (coarctation of
the aorta, dissecting aortic aneurysm, ventricular septal defect, atrial
septal defect, dextrocardia, bicuspid aortic valve, hypoplastic left heart),
abdomen (prune belly, telangiectases, hemangiomas, intestinal bleeding,
protein-loosing enteropathy), genitourinary system (unilateral aplasia or hypoplasia of the
kidneys, horseshoe kidneys, malrotation of the kidneys, duplication
dysgenesis, and streak gonads), endocrinopathy (hypothyroidism, Hashimoto disease,
diabetes mellitus), and skin and dermatoglyphs (puffy hands and feet, pigmented nevi,
seborrhea, xerosis, keloid, nail hypoplasia, low hairline, hirsutism).
Abnormally placed nipples are also very frequent. Mental retardation,
deafness, blindness, anorexia nervosa, amenorrhea, and sterility can occur.
This complex polymalformative syndrome benefits of many symptomatic
treatments that have greatly improved patients outcome. Features vary with age
of presentation: newborn: lymphedema of the hands and feet, small for age and
excessive skin at nape of the neck; childhood and adolescence: short stature (98% of patients),
gonadal dysgenesis (95% of patients), high-arched palate (80% of
patients), short neck and low hairline (80% of patients), and broad
chest, cubitus valgus, and nail hypoplasia.