Jacobsen Syndrome
Jacobsen syndrome is a rare disorder caused when genetic material is missing from chromosome 11(11q Deletion or 11q-) . About twice as many females are born with the syndrome as males
Many infants born with Jacobsen syndrome have central nervous system (CNS) defects. These can affect how the brain and spinal cord function. The result is impaired intelligence, learning, speech, and motor skills Affected children can have problems speaking, walking, standing, and sitting normally. Later, behavioral problems can occur. The most common issues are:
- compulsive behavior
- short attention span
- easily distracted
Children with Jacobsen syndrome are often diagnosed with attention deficit hyperactivity disorder (ADHD).
Short build and skull abnormalities also occur. These include a large-sized head, called macrocephaly, or pointed forehead, called trigonocephaly.
Other common facial deformities include:
- wide-set eyes (hypertelorism)
- droopy eyelids (ptosis)
- skin covering the inner corners of the eyes (epicanthal folds)
- broad nasal bridge
- V-shaped mouth
- small lower jaw
- small low-set ears, rotated backwards
Over 90 percent of affected newborns have a bleeding disorder called Paris-Trousseau syndrome. This prevents blood from clotting, and causes excessive bleeding and easy bruising.
Other common issues include:
- heart defects and congenital heart disease
- kidney defects
- gastrointestinal abnormalities
- eating difficulties and failure to thrive
- otitis media, frequent ear infections, sinusitis, and recurrent respiratory infections
- genitalia abnormalities
Newborns with Jacobsen syndrome may have trouble eating. Often, they need to be fed through a tube. These babies have problems gaining weight and growing normally.
Eyesight, hearing, immune system, and hormonal anomalies can also affect children with Jacobsen syndrome. Surgeries may be needed to repair malformations, including gastrointestinal corrections. Major cardiac defects can require heart surgery in infants.