Deficient thermoregulation, amyotonia, and hypogonadism are usually associated. After a few weeks or months, the affected infants become more responsive and more alert. Areflexia disappears gradually but hypotonia may persist longer. This phase is marked mainly by mental subnormality, delayed growth and motor development, speech defect, lack of emotional control, voracious appetite leading to obesity, hypotonia, hyperlaxity, delayed bone maturation, and multiple orofacial and other disoders. There is a tendency to develop diabetes mellitus and cardiac failure in some patients.
Pain insensitivity is common.
Dental complications include malocclusion, enamel hypoplasia, and caries. Thick saliva seen at the edges of the mouth. Osteoporosis and delayed bone maturation. Infertility, hypogonadism, scrotal hypoplasia, cryptorchidism, and small penis. Precocious puberty occurs in some patients.