Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare genetic lysosomal storage disease that affects the brain and spinal cord. Babies with Sanfilippo syndrome often appear normal at birth, but develop severe neurological symptoms in early childhood that progressively get worse. Here is an overview of what Sanfilippo babies typically look like as the disease progresses.
Appearance at Birth
Babies with Sanfilippo syndrome appear physically normal at birth. There are no distinctive facial features or other physical signs of the disease present. Parents usually have no indication that anything is wrong with their baby initially.
Some early subtle signs that may be present in the first year of life include:
- Mild coarsening of facial features
- Slightly enlarged head circumference
- Delayed developmental milestones
However, these signs are very subtle and often go unnoticed early on. Doctors typically cannot diagnose Sanfilippo syndrome based on appearance alone at birth.
Appearance in Early Childhood
The first overt symptoms of Sanfilippo syndrome usually appear between 2-6 years old. During this time, the child’s appearance may begin changing in noticeable ways, including:
- Coarsening facial features – thick lips and eyebrows, flattened nose bridge
- Enlarged head and joints
- Hirsutism – excessive body hair growth
- Sleep disturbances
- Recurrent upper respiratory infections
- Frequent diarrhea
Parents may notice developmental delays as well, such as the child struggling to speak, walk, or potty train at appropriate ages. Severe behavioral problems like hyperactivity, aggression, and insomnia often emerge during this stage.
Middle Childhood
By ages 6-10, the symptoms of Sanfilippo syndrome significantly worsen. The facial features become very coarse, with thick lips and eyebrows, an upturned nose, and an enlarged tongue. The abdomen may protrude due to enlarged internal organs like the liver and spleen.
Other physical signs at this stage include:
- Short stature
- Joint stiffness and skeletal abnormalities
- Vision loss
- Loss of previously acquired developmental skills
- Severe sleep disturbances
Behavioral problems intensify during this time as well. Hyperactivity, destructive tantrums, and social isolation are common. Intellectual disability becomes very apparent.
Late Childhood into Early Teens
By 10-15 years old, children with Sanfilippo syndrome have a very distinct facial appearance and physical delays. Facial features are described as “coarse” or “dysmorphic”, with thick lips and eyebrows, flattened bridge of nose, and forward-projecting jaw.
Other physical signs in late childhood include:
- Profound intellectual disability with severe cognitive regression
- Little to no language abilities
- Loss of motor skills – unable to walk or feed oneself
- Seizures
- Vision and hearing loss
Children are often smaller in stature and have joint abnormalities. They may exhibit compulsive behaviors like hand flapping or biting. Sanfilippo syndrome is usually diagnosed by age 10 based on this constellation of severe symptoms.
Teen Years until Adulthood
Sanfilippo syndrome follows a rapid neurodegenerative course. By the mid-teenage years, most children have lost all learned skills. They are non-verbal, non-ambulatory, and completely dependent on others for care.
Distinct facial features are still present, along with short stature and skeletal deformities. Additional signs include:
- No meaningful interaction with environment
- Inability to chew/swallow – fed via tube
- Blindness
- Deafness
- Seizures
- Spasticity
- Frequent respiratory infections
Sadly, most Sanfilippo children do not survive beyond the teenage years due to the progressive neurological damage and organ dysfunction caused by cellular accumulation of heparan sulfate.
Conclusion
In summary, Sanfilippo syndrome causes severe neurological regression in children that greatly impacts their appearance and physical abilities. While they appear normal at birth, coarse facial features, delayed development, and neurocognitive decline emerge over time. By the teenage years, Sanfilippo children exhibit profound intellectual disability, loss of skills, dysmorphic facial features, and skeletal abnormalities prior to their premature death.