Signs of Sanfilippo can be present in the newborn period, but often go unnoticed without newborn screening.
Most symptoms begin to be recognized between 1 and 6 years of age when the child begins showing signs of developmental delay.
Common Symptoms
Early Features:
- Transient Tachypnea Of Newborn*
- Coarse Facial Features*
- Prominent, thick eyebrows*
- Persistent Hirsutism*
- Macrocephaly*
- Speech & Developmental Delays+
- Hearing Loss+
- Recurrent Ear/Sinus Infections
- Chronic Upper Respiratory Congestion
- Challenging Behaviors
- Features of Autism
- Sleep Disturbances
- Diarrhea/Chronic Loose Stools
- Umbilical/Inguinal Hernia
- Enlarged Liver/Spleen
Later Features:
- Continued Coarsening of Facial Features
- Development of features of Autism
- Progressive Intellectual Disability
- Brain Atrophy
- Seizures/Movement Disorders
- Behavioral problems
- Hyperactivity
- Impulsivity
- Loss of Ambulation
- Loss of Oral Feeding
- Enlarged Liver/Spleen
- Hearing Loss
- Early Death
*The most-specific indicators of Sanfilippo syndrome in infants, as reported in Escolar C, Bradshaw J, Byers V, et. al, 2020, Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis III. Journal of Inborn Errors of Metabolism & Screening. 2020, Volume 8: e20200002.
+Early neurological features of Sanfilippo.
Photos of Children With Sanfilippo Syndrome
These photographs demonstrate the phenotype of Sanfilippo Syndrome.
Progression of Coarse Facial Features in Sanfilippo
These images compare the progression of coarse facial features of children with Sanfilippo syndrome, compared to their unaffected siblings. These images are from Escolar C, et. al, 2020, Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis III. Journal of Inborn Errors of Metabolism & Screening. 2020, Volume 8: e20200002..
Average Age at Diagnosis of Patients With Sanfilippo
| Sanfilippo Type | No. of Diagnoses+ | Median Age (Range)++ |
|---|---|---|
| Type A | 31 | 3.5 (0.2-17.1) |
| Type B | 17 | 3.5 (0.0-21.4) |
| Type C | 3 | 10.7 (5.7-12.0) |
| Type D | 4 | 3.1 (0.4-7.4) |