This short-stature patient can present with
cardiac lesions (78% of cases, pulmonary valve/artery stenosis, congenital
cardiac anomaly, atrial septal defect), cephalic malformations (ptosis, short neck,
brittle hair, microcephaly, epicanthic folds helix, high forehead, bitemporal
constriction, thickened/depressed nasal bridge, micrognathia, sparse/absent
scalp hair, nystagmus, palate deformations), orthopedic deformations (hyperextensible fingers,
multiple palmar creases, multiple plantar creases), cutaneous lesions (severe atopic
dermatitis, ichthyosis, hyperkeratosis, hypohidrosis), and neurological disturbance (mild to
moderate mental retardation, seizures, hypotonia, hypertonia, hydrocephalus,
cortical atrophy, frontal lobe hypoplasia, brainstem atrophy).
Hepatosplenomegaly and ectopic testes can also occur.