Table 2. [Mucopolysaccharidosis Type VII: Frequency of Select Features]. - GeneReviews®

Feature	% of Persons w/Feature
Growth / constitutional	Disproportionate short stature	100%
Nonimmune hydrops fetalis	30%-50%
Musculoskeletal features	Dysostosis multiplex	90%
Pectus carinatum/excavatum	85%
Joint contractures	85%
Joint stiffness	75%
Short-trunk short stature	80%
Scoliosis	70%
Kyphosis	70%
Gibbus	50%-70%
Genu valgum	60%-70%
Acetabular dysplasia	50%
Talipes equinovarus	35%
Neurologic	Intellectual disability	85%
Spinal stenosis	25%-50%
Hydrocephalus	Unknown
Carpal tunnel syndrome	Unknown
Craniofacial features	Coarse facial features	>80%
Macrocephaly	>80%
Corneal clouding	50%-75%
Small, widely spaced teeth	50%-75%
Macroglossia	20%-70%
Gingival hypertrophy	50%-60%
Respiratory/ENT manifestations	Recurrent respiratory infections	50%-70%
Snoring	60%-70%
Enlarged tonsils or adenoids	30%-40%
Obstructive sleep apnea	30%-70%
Conductive/sensorineural hearing loss	25%-50%
Liver/GI manifestations	Hepatosplenomegaly	75%
Umbilical/inguinal hernia	60%-80%
Cholestatic jaundice	5%-10%
Cardiac manifestations	Cardiac valvular disease	30%-50%
Left ventricular hypertrophy	30%-40%

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