Delayed growth, feeding difficulty, failure to thrive, colic, otitis media, and mental retardation are the early symptoms in infancy. Developmental disabilities and cardiovascular complications become apparent later in childhood. Hypertension, gastrointestinal problems, and genitourinary disorders usually complicate adult development. The phenotype may overlap with hypercalcemia with or without mental retardation and supravalvular aortic stenosis with or without mental retardation.
Prominent ears occur in some cases.
Flaring medial eyebrows, short palpebral fissures, hypotelorism, periorbital fullness, strabismus, blue or hazel eyes with stellate or lacy irides, corneal or lenticular opacity, blepharoptosis, and branching of the retinal vessels. Depressed nasal bridge, anteverted nostrils, epicanthic folds, and long philtrum. Umbilical and inguinal hernia. Kyphosis, lordosis, or scoliosis. Occasional hypoplastic nails.