Sly Syndrome - Symptoms

Symptoms

The symptoms of Sly syndrome are similar to those of Hurler syndrome (MPS I). The symptoms include:

• in the head, neck, and face: coarse (Hurler-like) facies and macrocephaly, frontal prominence, premature closure of sagittal lambdoid sutures, and J-shaped sella turcica
• in the eyes: corneal opacity and iris colobmata
• in the nose: anteverted nostrils and a depressed nostril bridge
• in the mouth and oral areas: prominent alveolar processes and cleft palate
• in the thorax: usually pectus carinatum or exacavatum and oar-shaped ribs; also a protruding abdomen and inguinal or umbilical hernia
• in the extremities: talipes, an underdeveloped ilium, aseptic necrosis of femoral head, and shortness of tubular bones occurs
• in the spine: kyphosis or scoliosis and hook-like deformities in thoracic and lumbar vertebrate
• in the bones: dysostosis multiplex

In addition recurrent pulmonary infections occur. Hepatomegaly occurs in the gastrointestinal system. Splenomegaly occurs in the hematopoietic system. Inborn mucopolysaccharide metabolic disorders due to β-glucuronidase deficiency with granular inclusions in granulocytes occurs in the biochemical and metabolic systems. Growth and motor skills are affected, and mental retardation also occurs.