TABLE 1

Medical Problems in WS by Organ System and Age

OrganSystem Prevalence, %Age
InfancyChildhoodAdult
Ocular and visual
 Esotropia50x
 Hyperopia50xx
Auditory
 Recurrent otitis media50xx
 Hypersensitivity to sound90xxx
 Progressive sensorineural hearing loss65xx
Dental
 Malocclusion85xx
 Microdontia95xx
Cardiovascular
 Any abnormality (total)80xxx
 SVAS75xxx
 SVPS25xxx
 PPS50x
 Other arterial stenosis20xx
 VSD10x
 Hypertension50xx
 Prolonged QTc13xx
Genitourinary
 Structural anomaly5xxx
 Enuresis50x
 Nephrocalcinosis<5xx
 Bladder diverticula50xx
Gastrointestinal
 Feeding difficulties70xx
 Constipation50xxx
 Colon diverticula30xx
 Rectal prolapse15xx
Integument
 Soft, lax skin90xxx
 Inguinal hernia40x
 Umbilical hernia50x
 Prematurely gray hair90x
Musculoskeletal
 Joint hypermobility90xx
 Joint contractures50xxx
 Radioulnar synostosis20xxx
 Kyphosis20x
 Scoliosis18xx
 Lordosis40xx
 Awkward gait60xx
Calcium
 Hypercalcemia15–40axx
 Hypercalciuria30xxx
Endocrine
 Hypothyroidism5–10xxx
 Early puberty (but rarely true precocious puberty)20x
 Diabetes mellitus15x
 Obesity30xx
Neurologic
 Hyperactive deep tendon reflexes75xx
 Chiari I malformation10xxx
 Hypotonia (central)80xx
 Hypertonia (peripheral)50xx
Cognitive
 Developmental delay95xx
 Intellectual disability75xx
 Normal intelligence5xx
 Impaired visuospatial constructive cognition95xx
Behavioral
 ADHD65x
 Anxiety disorder (specific phobia, generalized)70xx
 Sleep disorders65xx
  • Percentages are based on the following: (1) review of rates of complications in several reports of series of patients with WS and (2) a database of 582 children and adults with WS evaluated by Colleen A. Morris, MD. PPS, peripheral pulmonary artery stenosis; SVPS, supravalvular pulmonic stenosis, VSD, ventricular septal defect; —, not applicable.

  • a Hypercalcemia prevalence was greater in those <2 y of age.