Table 1.

MPS VII Manifestations

Clinical Manifestation	Age of Onset7,12,23,38	Prevalence in MPS VII Patients11,14,23,38	Supportive Treatment
Non-immune hydrops fetalis	Antenatal	25–50%	Standard neonatal resuscitation
Radiological signs of dysostosis multiplex	0–2 months	>75%	NA
Coarse facial features	0 months–5 years	>75%	NA
Hepatomegaly/splenomegaly	0–2 months	>75%	NA
Macrocephaly	2–5 months	>75%	NA
Gibbus/spinal deformities	2–5 months	50–75%	Spine surgery11
Umbilical and inguinal hernias	5 months	50–75%	Hernia repair11
Corneal clouding	5 months	50–75%	Keratoplasty101
Developmental delay/intellectual disability	6 months–2 years	>75%	Learning support, speech and language therapists23
Thick hair/eyebrows	6 months–10 years	50–75%	NA
Hip dysplasia	9 months–4 years	50–75%	Pain medications; pelvic plaster; hip replacement11
Hydrocephalus	9 months	<10%	Ventriculoperitoneal shunting102
Recurrent upper airway infections	1 year	25–75%	Antibiotics, removal of adenoids and tonsils, ventilation tubes11,23
Decreased pulmonary function and sleep disturbance	1–15 years	50–75%	Tracheotomy, oxygen supplementation, non-invasive ventilation11,38
Dental anomalies	1–10 years	50–75%	Dental treatment, including orthodontic treatments23
Short stature	1.5 years	>75%	NA
Spinal cord compression	1.5–14 years	25–50%	Surgical decompression or spinal fusion11
Hearing impairment	2.5 years	10–25%	Ventilation tubes, hearing aids23
Challenging behavior	2–10 years	50–75%	Behavior management23
Cardiac valve disease and cardiomyopathies	5 years	25–50%	Standard medications for heart failure; valve replacement99
Joint stiffness or pain	6–25 years	>75%	Physical therapy; non-steroidal anti-inflammatory drugs11

Note: Prevalence of non-immune hydrops fetalis as a clinical manifestation may be underestimated, as many cases are not investigated for MPS VII.

Abbreviation: NA, not applicable/available.