Symptoms of Little Fatty Willie Syndrome

Prader Willi syndrome is a genetic disorder characterized by abnormalities in chromosome 15, mainly manifested clinically as changes in appearance, muscle tone disorders, growth disorders, and abnormal gonadal development.

1. Morphological features: At birth or with age, their facial features gradually present special features, including skull, forehead, almond shaped eyes, small mouth, thin upper lip, downward sloping corners of the mouth, high palate arch, narrow nose bridge, low ear position, and some children may have swollen palms and backs of their hands and cone-shaped fingers. The child's skin is whiter, thinner, and less elastic compared to other family members, and the color of the sclera and hair in the eyes is lighter;

2. Muscle tone disorders: Decreased muscle tone is a common feature of reduced fetal movement, which can cause abnormal fetal position and increase the incidence of delivery accidents and cesarean section rates. After birth, there is reduced activity, drowsiness, weak crying, and delayed response. Due to weak sucking ability, feeding is difficult in newborns and infants, often requiring special auxiliary feeding;

3. Developmental disorders: Due to feeding difficulties, early growth retardation or stagnation may occur; Most children have growth hormone deficiency, slow height growth during school age, and no sudden height increase during puberty, resulting in a generally shorter physique;

4. Abnormal gonadal development: manifested as underdeveloped external genitalia at birth, incomplete scrotal development in male infants, small scrotum with few folds and light coloration, accompanied by cryptorchidism, small penis, absent or severely underdeveloped labia and clitoris in female infants; Early onset of adrenal function in some cases, such as pubic hair and axillary hair, as well as a small number of cases of precocious puberty; Delayed puberty development, infertility, primary amenorrhea, infrequent menstruation, etc. In addition, there are symptoms such as sleep disorders, neurological abnormalities (sensory abnormalities, high pain threshold, reduced vomiting reflex), abnormal psychological activity development (severe learning difficulties and delayed language development during school age), skeletal system abnormalities (such as scoliosis, osteoporosis, etc.), oblique vision, and recurrent respiratory infections. Children should receive targeted support and comprehensive treatment as soon as possible to improve their prognosis and enhance their quality of life.