Bachmann-Bupp syndrome (BABS) is characterized by a distinctive type of hair loss (alopecia), global developmental delay in the moderate to severe range, low muscle tone (hypotonia), nonspecific dysmorphic features, behavioral differences (autism spectrum disorder, attention-deficit/hyperactivity disorder) and feeding difficulties. Hair is typically present at birth but may be sparse and of an unexpected color with subsequent loss of hair in large clumps within the first few weeks of life. Rare findings may include seizures with onset in later childhood and conductive hearing loss.
ODC1