Simpson-Golabi-Behmel Syndrome Type 1 Many different parts of the body can be affected when a person has SGBS. Not every person with SGBS has the same symptoms, and none have all of these symptoms. Overall General muscle weakness and low muscle tone (hypotonia) in 61% of people Large size (macrosomia) Head Abnormal shape of the skull due to early bone fusion (craniosynosto  Read More

KSC2 is present at birth (congenital) and low birth weight may be one of the first symptoms. This extremely rare genetic disorder is characterized by abnormalities affecting the skeleton, the head, and the eyes. Recurrent episodes of unusually low levels of calcium (hypocalcemia) in the blood are common. Most affected individuals, exhibit short stature of adult height ranging from 48 to 59 inches. Intelligence is usually normal. KCS2 u  Read More

The most severe cases of MPS VII are characterized by hydrops fetalis, or when excess fluid accumulates in the body before birth. This can result in a stillborn or death shortly after birth. Neonatal jaundice or the yellowing of the skin may occur. Children with more mild cases of MPS VII begin to show symptoms in early childhood. Children with MPS VII may have an unusually short trunk and growth disability, resulting in short stature  Read More