TABLE 1.
Clinical presentation of Schaaf-Yang syndrome at various age
| Age of presentation | Signs and symptoms |
|---|---|
| Prenatal findings | Reduced fetal movements |
| Polyhydramnios | |
| Distal joint contractures | |
| At birth | Muscular hypotonia |
| Distal joint contractures | |
| Respiratory distress | |
| Nonspecific dysmorphic facial features (pointed chin, frontal bossing, low-set ears) | |
| From infancy | |
| Gastrointestinal | Feeding problems with failure to thrive |
| Chronic constipation | |
| Gastrointestinal reflux disease | |
| Hyperphagia (adulthood) | |
| Neurologic disorders and behavioral problems | Neurodevelopmental delay of variable degree |
| Intellectual disability | |
| Autism spectrum disorder | |
| Seizures | |
| Endocrinopathy | Hypogonadism |
| GH deficiency and short stature | |
| Musculoskeletal | Scoliosis |
| Decreased bone mineral density | |
| Distal joint contractures | |
| Eye abnormality | Esotropia, myopia, strabismus |
| Nystagmus | |
| GH = growth hormone. | |