By the time afflicted individuals reach 4 to 6 years of age most will manifest with claw-hand deformities, scoliosis, and short stature. [themedicalbiochemistrypage.org]

Individuals with mucolipidosis III alpha/beta grow slowly and have short stature. They also have stiff joints and dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. [ismrd.org]

Hearing abnormality Abnormal hearing 0000364 Hypoplastic inferior ilia 0008821 Joint stiffness Stiff joint Stiff joints [ more ] 0001387 Large iliac wings 0008818 Prominent occiput Prominent back of the skull Prominent posterior skull [ more ] 0000269 Short [rarediseases.info.nih.gov]

General musculoskeletal Short stature, skeletal dysplasia with muscle weakness and contractures, osteoporosis, and joint contractures (. Fig. 5.17). Upper extremity Wrist and digital joint contractures (. [passeidireto.com]

Clinical features range from early developmental delay, coarse facial features, short stature, dysostosis multiplex, and hepatosplenomegaly to late onset cherry-red spot myoclonus syndrome. [mayomedicallaboratories.com]

[…] features Coarse facial appearance 0000280 Corneal opacity 0007957 Hyperlordosis Prominent swayback 0003307 Inguinal hernia 0000023 5%-29% of people have these symptoms Abnormal aortic valve morphology 0001646 Cleft palate Cleft roof of mouth 0000175 Fatigue [rarediseases.info.nih.gov]

Symptoms of aortic insufficiency may include palpitations, fatigue, shortness of breath, and chest pain. Causes Pseudo-Hurler polydystrophy is inherited as an autosomal recessive trait. [rarediseases.org]

Results of pulmonary function tests show markedly decreased vital capacity, maximal breathing capacity, maximal expiratory capacity, and inspiratory static pressure, as well as early diaphragmatic fatigue. [emedicine.medscape.com]

Procedures include review of medical history, blood sample collection at each visit (multiple draws from an IV catheter at Visit 6), neurological exams, pain and fatigue questionnaires, and MRI scans (Visits 3 and 6). [rarediseasesnetwork.org]

tissue swelling of interphalangeal joints Split hand ... ... [familydiagnosis.com]

tissue swelling of interphalangeal joints Soft tissue swelling of hinge joints 0006162 Specific learning disability 0001328 Split hand Claw hand Claw hand deformities Claw hands Claw-hand deformities Split-hand [ more ] 0001171 Thickened skin Thick skin [rarediseases.info.nih.gov]

Succinct, targeted coverage of normal childhood growth and development, as well as the diagnosis, management, and prevention of common pediatric diseases and disorders, make this an ideal medical reference book for students, pediatric residents, nurse [books.google.com]

intolerance) - pyruvate metabolism and gluconeogenesis ( PCD, PDHA ) - Pentosuria - Renal glycosuria Lipid storage Sphingolipidoses/ Gangliosidoses : GM2 gangliosidoses ( Sandhoff disease, Tay-Sachs disease ) - GM1 gangliosidoses - Mucolipidosis type [bionity.com]

Children at risk for failure to thrive (growth failure) may need nutritional supplements, especially iron and vitamin B12 for persons with ML IV. Respiratory infections should be treated immediately and fully with antibiotics. [ninds.nih.gov]

It has a rapidly progressive course of failure to thrive and developmental delay, leading to death by age 5-8 years, usually from cardiorespiratory complications. Birth weight and length are below the reference range. [emedicine.medscape.com]

opacity 0007957 Hyperlordosis Prominent swayback 0003307 Inguinal hernia 0000023 5%-29% of people have these symptoms Abnormal aortic valve morphology 0001646 Cleft palate Cleft roof of mouth 0000175 Fatigue Tired Tiredness [ more ] 0012378 Reduced bone [rarediseases.info.nih.gov]

Frequent clinical findings include recurrent bacterial infections, deafness, hepatomegaly, and lenticular or corneal opacities. [emedicine.medscape.com]

Type II is adult onset characterized by angiokeratoma and mild cognitive impairment, and type III is an intermediate and variable form ranging from seizures and psychomotor delay to milder autistic features. [mayomedicallaboratories.com]

Based on the results in MPS I dogs, a pilot trial of intrathecal injections of enzyme was started and is ongoing in human patients to treat the cognitive impairment that occurs in this disease. [rarediseasesnetwork.org]

[…] pseudo-hurler polydystrophy syndrome' Example sentence the tribesmen picked up great rocks to hurl at us. this apparent interest of his in modern music is completely pseudo. a good roper will hurl out the coil with marvelous accuracy and force. the best way to forget [imword.com]

1-phosphate uridylyltransferase galactosemia, Galactokinase deficiency ) - other intestinal carbohydrate absorption ( Glucose-galactose malabsorption, Sucrose intolerance) - pyruvate metabolism and gluconeogenesis ( PCD, PDHA ) - Pentosuria - Renal glycosuria [bionity.com]