Hypermobile joints and an abnormal gait with a tendency to fall may also be presenting features. Unlike other mucopolysaccharidoses (MPS) intelligence is often preserved. [genedx.com]

Congenital SEDs can usually be differentiated from MPS IVA because symptoms are present at birth. [omicsonline.org]

The role and influence of ERT with elosulfase alfa on the presented cardiovascular findings may be neglectable. [journals.plos.org]

MPS III (Sanfilippo syndrome) : Usually presents around 2-6 years of age with developmental delay and behavioural problems. Progressive neurocognitive decline in severe cases. Little or no somatic involvement. [genetics4medics.com]

We have reported these cases of MPS as it is a rare disease and also Morquio is not the common presentation among the MPS. [jcdr.net]

• Short Stature

  Affects Freak the Mighty Kevin ('Freak') experiences many of these symptoms, especially the short stature and joint problems. [study.com]

  stature with a particularly short trunk Widely spaced teeth Exams and Tests The health care provider will perform a physical examination. [mountsinai.org]

  The problems tied to Morquio syndrome lead to symptoms such as curved spine (scoliosis), joints that move more than they should (hypermobility), neck that moves more than it should (instability), a large head, short stature, wide teeth, heart and vision [nicklauschildrens.org]

  Morquio type B is characterized by a generalized skeletal dysplasia resulting in short stature, pectus carinatum (protrusion of the sternum), platyspodylia, scoliosis and odontoid hypoplasia. [themedicalbiochemistrypage.org]

  Short stature, genu valgum/varum. Joint stiffness, restricted mobility. Phalangeal dysostosis which present as claw hand deformity. Eyes : Corneal clouding which can cause significant visual impairment. [genetics4medics.com]

• Falling

  A waddling gait with a tendency to fall are characteristically seen in these patients. [themedicalbiochemistrypage.org]

  Hypermobile joints and an abnormal gait with a tendency to fall may also be presenting features. Unlike other mucopolysaccharidoses (MPS) intelligence is often preserved. [genedx.com]

  Morquio had damaged her vertebra, and a simple fall could have left her paralyzed. “Bella’s condition was neurologically precarious and life threatening,” recalls Karlin. [thriving.childrenshospital.org]

  Affected individuals exhibit a waddling gait with frequent falls. Early development and intelligence are typically normal, unlike other MPS storage disorders. High frequency hearing impairment is common. [rarediseases.org]

  Corneal clouding on both eye 16. 16 Developmental tasks As my patient is of age 13 years he falls under group adolescents and has following developmental tasks According to book In my patient Adjust to sexually maturing bodies and feelings Develop and [slideshare.net]

• Recurrent Respiratory Infection

  Affected individuals may also develop numerous and recurrent respiratory infections and a thickening of the heart valves. Skeletal Symptoms People with Morquio A Syndrome may have a wide range of skeletal symptoms. [morquio.ca]

  Other signs and symptoms include coarse facial features, vision loss [ 29 ], hearing loss [ 30 ], decreased pulmonary function and obstructive sleep apnoea [ 31 ], frequent and recurrent respiratory infections, cardiac disease [ 32, 33 ], hepatomegaly [rheumatology.oxfordjournals.org]

  Children may experience noisy breathing and recurring upper respiratory tract and ear infections. Feeding may be difficult for some children, and many experience periodic bowel problems. [slideshare.net]

  Table 1 Signs and symptoms that should generate clinical suspicion of MPS IVA Skeletal abnormalities Non-skeletal abnormalities Short stature Respiratory compromise a Abnormal gait Endurance limitations Genu valgum Recurrent respiratory infections Spinal [ncbi.nlm.nih.gov]

• Recurrent Respiratory Infection

  Affected individuals may also develop numerous and recurrent respiratory infections and a thickening of the heart valves. Skeletal Symptoms People with Morquio A Syndrome may have a wide range of skeletal symptoms. [morquio.ca]

  Other signs and symptoms include coarse facial features, vision loss [ 29 ], hearing loss [ 30 ], decreased pulmonary function and obstructive sleep apnoea [ 31 ], frequent and recurrent respiratory infections, cardiac disease [ 32, 33 ], hepatomegaly [rheumatology.oxfordjournals.org]

  Children may experience noisy breathing and recurring upper respiratory tract and ear infections. Feeding may be difficult for some children, and many experience periodic bowel problems. [slideshare.net]

  Table 1 Signs and symptoms that should generate clinical suspicion of MPS IVA Skeletal abnormalities Non-skeletal abnormalities Short stature Respiratory compromise a Abnormal gait Endurance limitations Genu valgum Recurrent respiratory infections Spinal [ncbi.nlm.nih.gov]

• Widely Spaced Teeth

  Other possible features include pulmonary compromise, valvular heart disease, hearing loss, hepatomegaly, fine corneal clouding, and widely spaced teeth with abnormally thin enamel with increased risk of caries formation. [genedx.com]

  Turnaround Time 2 weeks CPT Code(s) 82657 Cost $200.00 Enzymes N-acetyl-galactosamine-6-sulfatase Beta-galactosidase Morquio syndrome is characterized by short stature and trunk, large head, mildly coarse facies, widely spaced teeth, corneal clouding, [ggc.org]

  […] mouth Broad mouth Large mouth [ more ] 0000154 Widely spaced teeth Wide-spaced teeth Widely-spaced teeth [ more ] 0000687 Showing of 38 | Last updated: 5/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging. [rarediseases.info.nih.gov]

  spaced teeth Exams and Tests The health care provider will perform a physical examination. [mountsinai.org]

  Knock-knees (knees that point inward and touch each other as the person walks) Large head Widely-spaced teeth Coarse facial features which may include prominent scalp veins, flat-bridged nose and bulging forehead Possible heart and vision problems Diagnostic [chop.edu]

• Dental Caries

  CASE REPORT A male patient, 17 years, weighing 18 kg, presented to the pedodontics department with dental caries for full mouth rehabilitation. [apicareonline.com]

  The dental findings revealed widely spaced permanent teeth with retained primary maxillary right and left canine teeth. It also revealed the presence of dental caries in mesial surface of permanent mandibular right and left first molars. [jisppd.com]

  Mouth and Throat Sore on lips Color/ cracks/ ulceration Oral cavity Mucus membrane color Gum-bleeding/ ulceration/ swelling Missing teeth Dental caries Tongue Odor from mouth Difficulty in swallowing Tonsils ✓ ✓ ✓ ✓ ✓ ✓ ✓ Absent Pink color, no cracks [slideshare.net]

• Hepatomegaly

  Other possible features include pulmonary compromise, valvular heart disease, hearing loss, hepatomegaly, fine corneal clouding, and widely spaced teeth with abnormally thin enamel with increased risk of caries formation. [genedx.com]

  Other features may include inguinal hernia, hepatomegaly and hearing loss. There is a wide spectrum of those affected ranging from mild to severe. Intelligence is typically not affected. [ggc.org]

  Extra-skeletal manifestations include respiratory problems, hepatomegaly, valvulopathies, hearing loss and corneal clouding. Intelligence is normal. [orpha.net]

  Hepatomegaly and peripheral corneal deposits resembling arcus senilis were present. Peripheral leukocytes contained basophilic granulation. [annals.org]

  Other common features of this condition include mildly "coarse" facial features, thin tooth enamel, multiple cavities, heart valve abnormalities, a mildly enlarged liver (hepatomegaly), and a soft out-pouching around the belly-button (umbilical hernia [ldnz.org.nz]

• Hearing Impairment

  impairment Unlike some other types of MPS, Morquio syndrome doesn't appear to cause intellectual disabilities. [everydayhealth.com]

  Affected people may also experience involvement of other organ systems such as respiratory problems, valvular heart disease, hearing impairment, corneal clouding, dental abnormalities, hepatomegaly, and spinal cord compression. [1] [2] MPS IVA is caused [rarediseases.info.nih.gov]

  Hearing impairment. Umbilical hernias and inguinal hernias. Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly. [patient.info]

  The girl had hearing impairment for which she was provided a hearing aid. The facial features included oblique palpebral fissures, flat nasal bridge, flared nose, and a large mouth with broad lips. [jisppd.com]

  Additionally, ventilation tubes and hearing aids may be needed for individuals with hearing loss. [rarediseases.org]

• Corneal Opacity

  To give a synopsis of the disease: There is severe growth retardation (adult height 82 to 115 cm); the skull is unusually thick and dense; there are corneal opacities (clouding of the eyes) and hearing loss. The liver is slightly enlarged. [medicinenet.com]

  Tukey's multiple comparison test demonstrated a statistically significant difference in IOP between the mild and severe corneal opacity groups, but not between mild and moderate, or moderate and severe corneal opacity groups. [nature.com]

  Specific features include: Corneal opacity not a usual feature. Some flecks may be seen on slit lamp examination. Chronic diarrhoea is a common problem. Distinctive skin lesion (pebbling). [genetics4medics.com]

  They presented marked growth retardation, spinal deformity, chest deformity, genu valgum, and corneal opacities. Hepatomegaly was observed in two patients, bilateral deafness in one, and spastic paraplegia in two patients. [cags.org.ae]

  Opthalmologically [1] [2] [3] [7] [8] [9] such patients manifest slight cloudiness of corneal due to small dust like opacities dispersed in the stroma. [ijo.in]

• Genu Valgum

  They presented marked growth retardation, spinal deformity, chest deformity, genu valgum, and corneal opacities. Hepatomegaly was observed in two patients, bilateral deafness in one, and spastic paraplegia in two patients. [cags.org.ae]

  valgum Thoracic manifestations anterior sternal bowing, increased AP chest diameter, wide ribs Echocardiography late onset aortic regurgitation Treatment and Prognosis Life expectancy ranges between 30-40 years. [radiopaedia.org]

  Short stature, genu valgum/varum. Joint stiffness, restricted mobility. Phalangeal dysostosis which present as claw hand deformity. Eyes : Corneal clouding which can cause significant visual impairment. [genetics4medics.com]

  There is joint laxity and knock knees (genu valgum) and hip deformity (dysplasia). The intelligence is normal. (In other words, there is no tendency to mental retardation.) [medicinenet.com]

  Skeletal deformities (platyspondyly, kyphosis, scoliosis, pectus carinatum, genu valgum, long bone deformities) become more pronounced as the child grows. Joint hyperlaxity is accompanied by frequent luxations (hips, knees). [orpha.net]

• Platyspondyly

  Individuals with SMDK have platyspondyly, overfaced vertebral pedicles, irregular proximal femoral growth plates, and carpal ossification delay [ 21 ]. [omicsonline.org]

  Plain radiograph / CT Axial manifestations platyspondyly hypoplasia of odontoid peg atlantoaxial subluxation os odontoideum anterior central vertebral body beaking round vertebral bodies coxa valga goblet shaped flared iliac wings, increased acetabular [radiopaedia.org]

  There are multiple abnormalities of the spine (platyspondyly, odontoid hypoplasia, cervical subluxation and cervical myelopathy). The chest is pigeon-shaped (pectus carinatum). [medicinenet.com]

  Skeletal deformities (platyspondyly, kyphosis, scoliosis, pectus carinatum, genu valgum, long bone deformities) become more pronounced as the child grows. Joint hyperlaxity is accompanied by frequent luxations (hips, knees). [orpha.net]

• Hyperlaxity

  Joint hyperlaxity is accompanied by frequent luxations (hips, knees). [orpha.net]

  […] by abnormal skeletal development that includes growth retardation, a prominent lower face, an abnormally short neck, knock knees or genu valgum, flat feet, kyphoscoliosis, abnormal development of the growing ends of the long bones (epiphyses), joint hyperlaxity [cags.org.ae]

  Bert JM: La dystropie osseuse de Morquio dens le carde des hyperlaxitis familiales. Rev. Neurol. (Paris) 63:845-856: 1935. 24. Reilly W.A.: The granules in the leucocytes in gargoylism. Am.. J. Dis. Child 62 : 489 - 1941. 25. [ijo.in]

  Short stature Joint stiffness Hyperlaxity Carpal tunnel syndrome Hip dysplasia Severe skeletal deformities 37. 37 Management Currently there is no cure for these disorders. [slideshare.net]

• Long-Bone Deformity

  Skeletal deformities (platyspondyly, kyphosis, scoliosis, pectus carinatum, genu valgum, long bone deformities) become more pronounced as the child grows. Joint hyperlaxity is accompanied by frequent luxations (hips, knees). [orpha.net]

• Osteoporosis

  Two adult patients had osteoporosis (T-scores –3.9 and –5.7), while in 3 pediatric patients the Z-score was within the normal range. [termedia.pl]

  They are characterized by the following: dwarfism, short neck, pigeon chest, lumbar kyphosis, genu valgum, prominent maxilla, broad mouth, hypermobility of metacarpal joints and general osteoporosis. [ijo.in]

  Big lower jaw Increased projection of lower jaw Increased size of lower jaw Large lower jaw Prominent chin Prominent lower jaw [ more ] 0000303 Metaphyseal widening Broad wide portion of long bone 0003016 Opacification of the corneal stroma 0007759 Osteoporosis [rarediseases.info.nih.gov]

• Hydrops Fetalis

  The severe neonatal form is the most common type of this syndrome, characterized by hydrops fetalis (abnormal accumulation of fluid in various tissues of the body) and dysmorphic features. [news-medical.net]

  The most severe form is characterized by hydrops fetalis and premature or very early death. [centogene.com]

  In its rarest form, Sly syndrome causes children to be born with hydrops fetalis, in which extreme amounts of fluid are retained in the body. Survival is usually a few months or less. Most children with Sly syndrome are less severely affected. [en.wikipedia.org]

  In the overall presentation, MPS I, II and VII have many similar clinical features [ 1, 26, 27 ], although hydrops fetalis resulting in stillbirth or neonatal death may be the most common presentation of MPS VII. [rheumatology.oxfordjournals.org]

• Short Neck

  Airway examination revealed adequate mouth opening with Mallampati grade II with large tongue and short neck. A cervical collar was placed around neck. [jnaccjournal.org]

  Clinical features: severe dwarfism ( joint laxity corneal opacification/clouding lymphadenopathy progressive deafness spinal kyphoscoliosis prominent mandible and lower face short neck It results from an excess of keratan sulphate from a deficit in its [radiopaedia.org]

  The defects are present at birth and include severe deformity of the spine and chest, short neck, loose and enlarged joints, and irregular ends of the long bones. The disorder is inherited in an autosomal recessive manner. [medicinenet.com]

  The disorder results in short stature, spinal deformity, odontoid hypoplasia, macroglossia, corneal opacities, short neck, pectus carinatum, kyphoscoliosis, dwarfism, cardiac abnormalities, hepatomegaly, acoustic deafness, and dental abnormalities. 2 [apicareonline.com]

  Symptoms may include growth retardation, a prominent lower face, an abnormally short neck, knees that are abnormally close together (knock knees or genu valgum), flat feet, abnormal sideways and front-to-back or side-to-side curvature of the spine (kyphoscoliosis [centogene.com]

• Coarse Face

  This disorder is characterized by normal cognition, coarse faces and dysostosis multiplex, hepatosplenomegaly, and cardiac valve disease. [genome.jp]

  Initial diagnosis was made at MediScan system, Fetal Care and Research Foundation, Mylapore, Chennai, in the light of clinical findings like coarse face, low nasal bridge, and the following radiographic findings which included spatulated ribs, gibbus [jisppd.com]

• Abnormal Gait

  Hypermobile joints and an abnormal gait with a tendency to fall may also be presenting features. Unlike other mucopolysaccharidoses (MPS) intelligence is often preserved. [genedx.com]

  […] loss a Joint abnormalities Conductive Joint hypermobility Sensorineural Joint pain Dental abnormalities and oral health challenges a Common patient-reported initial skeletal symptoms include short stature, abnormal gait, genu valgum, pectus carinatum [ncbi.nlm.nih.gov]

  gait, cervical spine instability and shortened lifespan. [ojrd.biomedcentral.com]

  The clinical manifestations of Morquio B syndrome include platyspondyly, femoral epiphyses, atlanto-occipital instability, genu valgum, gait abnormalities, and cornel clouding. [emedicine.medscape.com]

• Clumsiness

  […] entrapment of the median or ulnar nerves has been reported to affect 96 % of children who have Hunter syndrome but may be underdiagnosed, for patients’ cognitive impairment often prevents them from accurately describing their symptoms. 17,25 Manual clumsiness [touchneurology.com]

Diagnosis See Workup. Treatment See Treatment. Pathophysiology GAGs are long, linear polysaccharide molecules composed of repeating dimers, each of which contains a hexuronic acid (or galactose in the case of keratan sulfate) and an amino sugar. [emedicine.medscape.com]

Ms Antonio has been campaigning for three years in a bid to have treatment made more accessible. [abc.net.au]

It can be hard to get treatment for MPS because of the different criteria applied by Mexico’s various state health insurers. [ft.com]

Anna explains that stopping treatment will mean that these benefits will start to be reversed. [theguardian.com]

The treatments can vary widely depending on what parts of the body are affected. Treatment may include physical therapy, occupational therapy, counseling, surgery and other treatments. [nicklauschildrens.org]

There is no treatment for MPS IVB. Clinical Trial Clinical trials are research studies that determine whether treatments or devices are safe for humans. [mpssociety.org]

Prognosis Prognosis depends on the severity of the disease and on the quality of care, which can allow patients to survive beyond the age of 50. The documents contained in this web site are presented for information purposes only. [orpha.net]

[…] metacarpal flattened femoral epiphyses; risk of lateral subluxation and dislocation coxa valga genu valgum Thoracic manifestations anterior sternal bowing, increased AP chest diameter, wide ribs Echocardiography late onset aortic regurgitation Treatment and Prognosis [radiopaedia.org]

(Outcomes/Resolutions) Mucopolysaccharidosis Type IV (Morquio Syndrome) is a progressive disorder that has a generally poor prognosis. However, the prognosis also depends upon the severity of the signs and symptoms. [dovemed.com]

Prognosis There is a high morbidity and mortality, causing in many cases severe neurological and somatic damage in the first years of life [ 10 ]. [patient.info]

Etiology A deficiency in one of the two enzymes required for the degradation of keratan sulfate (KS) is responsible for the MPS IV subtypes: N-acetylgalactosamine-6-sulfate sulfatase in MPS IVA, and beta-D-galactosidase in MPS IVB. [orpha.net]

(Etiology) Mucopolysaccharidosis Type IV is caused by inheriting faulty genes that prevents the body from producing certain enzymes. [dovemed.com]

[…] pediatric history of patient Describe process of growth and development of children from birth to adolescence Explain the neonatal assessment and different level of care and strategies Discuss common childhood disease/ problems related to various systems, etiology [slideshare.net]

Summary Epidemiology Prevalence is approximately 1/250 000 for type IVA but incidence varies widely between countries. MPS IVB is even rarer. [orpha.net]

All studies were reported to be case series or epidemiological studies of 1 to 34 year duration. The diagnostic methods employed by the different reports were not described in detail. [ojrd.biomedcentral.com]

Epidemiology The estimated incidence of MPS I is 1 in every 100,000 live births [ 2 ]. The mode of inheritance is autosomal recessive [ 3 ]. Genotype-phenotype correlation is poor [ 1 ]. [patient.info]

An epidemiologic study of the mucopolysaccharidoses in Western Australia using multiple ascertainment sources was performed and the incidence rate for the period 1969-1996 was estimated. [emedicine.medscape.com]

The clinical spectrum and pathophysiology of skeletal complications in lysosomal storage disorders. Best Pract Res Clin Endocrinol Metab. 2015;29:219-35. [whatwouldyoususpect.com]

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Mucopolysaccharidosis type III (MPS-III), also known as Sanfilippo syndrome, is an autosomal recessive condition that consists [mayomedicallaboratories.com]

Morquio Syndrome as a rare cause of disproportionate short stature. pathophysiological, diagnostic and therapeutic approach. about a case. Rev venez Endocrinol Metab. 2016;5(P 90):217–25. Zarante I, Suárez F. [revistapediatria.org]

Pathophysiology GAGs are long, linear polysaccharide molecules composed of repeating dimers, each of which contains a hexuronic acid (or galactose in the case of keratan sulfate) and an amino sugar. [emedicine.medscape.com]

Pathophysiology of the MPS disorders The MPSs are chronic and progressive syndromes that produce a spectrum of signs and symptoms in multiple organ systems. A good example of this is seen in individuals with MPS I. [rheumatology.oxfordjournals.org]

We strive to maximize children’s mobility, correct deformity, and prevent future complications. [nemours.org]

A spinal fusion may prevent permanent spinal cord injury in people whose neck bones are underdeveloped. [mountsinai.org]

The Lipid Research Clinics Coronary Primary Prevention Trial Results, II: the relationship of reduction in incidence of coronary heart disease to cholesterol lowering. ‎ [books.google.es]

(Etiology) Mucopolysaccharidosis Type IV is caused by inheriting faulty genes that prevents the body from producing certain enzymes. [dovemed.com]