Symptoma

Mucopolysaccharidosis Type 2

Hunter's Syndrome

Mucopolysaccharidosis type II (MPS 2), also known as Hunter syndrome, is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate sulfatase.

Mucopolysaccharidosis 2 presents with a progressive multisystem involvement due to glycosaminoglycan accumulation in virtually all tissues and organs.

Signs and symptoms of MPS 2A include:

The presentation of MPS 2B usually occurs in adolescence or adulthood. Typical signs and symptoms include:

Some of these manifestations are seen in a lesser degree in MPS 2B compared to MPS 2A.

  • Splenomegaly

    Individuals with this disorder may experience the following signs: abnormal retina, heart murmur and leaky heart valves, enlarged liver (hepatomegaly) enlarged spleen (splenomegaly), inguinal hernia, and joint contractures. [secure.ssa.gov]

    Noninflammatory retina disease 0000488 Sensorineural hearing impairment 0000407 Short attention span Poor attention span Problem paying attention [ more ] 0000736 Sleep apnea Pauses in breathing while sleeping 0010535 Sleep-wake cycle disturbance 0006979 Splenomegaly [rarediseases.info.nih.gov]

  • Short Stature

    Early bone involvement leads to decreased growth velocity and short stature in nearly all patients. [ncbi.nlm.nih.gov]

    0030799 Severe short stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Short neck Decreased length of neck 0000470 Split hand Claw hand Claw hand deformities Claw hands Claw-hand deformities Split-hand [ more ] 0001171 Thick [rarediseases.info.nih.gov]

  • Developmental Delay

    Mucopolysaccharidosis type II is a multisystem disorder and symptoms include coarse face, short stature, skeletal abnormalities, recurrent infections, cardiomyopathy, hepatomegaly, umbilical and inguinal hernia, diarrhea, developmental delay, and intellectual [symptoma.com]

    A prominent feature is neurological damage that presents as developmental delay and hyperactivity but progresses to mental retardation and dementia. [uniprot.org]

    He has short stature, webbing of his hands, pulmonary stenosis, seizures and hydrocephalus along with developmental delay. [ggc.org]

    In addition to developing somatic symptoms, patients having the neuronopathic form of the disease also display developmental delay and cognitive impairment in early childhood that progressively worsens and that is severely life-limiting. [touchneurology.com]

  • Dysostosis

    Extensive palliative care is required, patients must be regularly evaluated by echocardiogram, respiratory function, full radiologic examination to identify dysostosis multiplex, cranial and cervical MRI with or without lumbar puncture to assess cerebrospinal [orpha.net]

    This disorder is characterized by mental retardation, coarse faces, short stature, hearing loss, hydrocephalus, hepatosplenomegaly, dysostosis multiplex, airway obstruction, and cardiac valve disease. [genome.jp]

    Most people with MPS II also have dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. Dysostosis multiplex includes a generalized thickening of most long bones, particularly the ribs. [ghr.nlm.nih.gov]

  • Inguinal Hernia

    Individuals with this disorder may experience the following signs: abnormal retina, heart murmur and leaky heart valves, enlarged liver (hepatomegaly) enlarged spleen (splenomegaly), inguinal hernia, and joint contractures. [secure.ssa.gov]

    Initial manifestations include: frequent respiratory tract infections (in particular otitis media); umbilical and inguinal hernia; intractable diarrhea; hepatosplenomegaly; and skin lesions resembling an orange peel (on the shoulder, back and thighs). [orpha.net]

    Mucopolysaccharidosis type II is a multisystem disorder and symptoms include coarse face, short stature, skeletal abnormalities, recurrent infections, cardiomyopathy, hepatomegaly, umbilical and inguinal hernia, diarrhea, developmental delay, and intellectual [symptoma.com]

  • Coarse Facial Features

    Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly). [secure.ssa.gov]

    There are some obvious physical signs of Hunter syndrome, such as coarse facial features and an enlarged liver and spleen, as well as some less noticeable symptoms. 2 Symptoms range from patient to patient but here are the key signs: 3 Hunter syndrome [rare2aware.com]

    Figure 1: shows Coarse facial features with depressed nasal bridge, a short neck, long philtrum. Figure 2: showing dorso lumbar scoliosis with anterior breaking at D12, L1,2,3 with ovoid shaped vertebra. [omicsonline.org]

    80%-99% of people have these symptoms Coarse facial features Coarse facial appearance 0000280 Limitation of joint mobility Decreased joint mobility Decreased mobility of joints Limited joint mobility Limited joint motion [ more ] 0001376 Macrocephaly [rarediseases.info.nih.gov]

  • Hoarseness

    Common signs and symptoms include a large head, full lips, large rounded cheeks, a broad nose, hoarse voice and an enlarged tongue (macroglossia). Upper respiratory infections and sleep apnea are frequent. [symptoma.com]

    […] voice Hoarseness Husky voice [ more ] 0001609 Inguinal hernia 0000023 Irregularity of vertebral bodies 0004582 Macroglossia Abnormally large tongue Increased size of tongue Large tongue [ more ] 0000158 Peripheral visual field loss Loss of peripheral [rarediseases.info.nih.gov]

  • Nasal Congestion

    Signs of a related sinus or respiratory infection may include: cough fever headache nasal congestion sinus pain With a skin infection, mucormycosis can develop within any part of your body. [healthline.com]

    The most frequently reported AEs included fever, headache, cough, pharyngitis, upper respiratory tract infection, nasal congestion, nausea, vomiting, abdominal pain, and diarrhea. The majority of AEs were mild or moderate in severity in all groups. [nature.com]

    Signs & Symptoms The most common presentation is a sinus infection (sinusitis) that is accompanied by nasal congestion, nasal discharge, and sinus pain. A fever and headache can also occur. [rarediseases.org]

  • Clubbed Finger

    On examination, he was short statured, with a big head, protruding abdomen, coarse skin, swollen wrist joints, and clubbed fingers. There was mild mental retardation. [amhsr.org]

    On examination, they had short stature, big head, protruding abdomen, coarse skin, swollen wrist joints, and clubbed fingers. [mjdrdypu.org]

  • Delayed Speech Development

    Coarse facial features, hepatomegaly, hearing difficulties and delayed speech development are common. Life expectancy in attenuated forms may be limited to Figure 4b ). [touchophthalmology.com]

  • Tonsillar Hypertrophy

    In another, we carried out tonsillar volumetric reduction through radiofrequency, with recurrence of symptoms and tonsillar hypertrophy exploration of grade III/IV. [elsevier.es]

  • Hepatosplenomegaly

    Enzyme replacement therapy (ERT) using idursulfase (Elaprase ) was conducted to the patient and it improved hepatosplenomegaly, white blood cells and platelets number, and decreased the level of urinary glycosaminoglycan. [ncbi.nlm.nih.gov]

    Most children with MPS2 have a severe form with early somatic abnormalities including skeletal deformities, hepatosplenomegaly, and progressive cardiopulmonary deterioration. [uniprot.org]

    Initial manifestations include: frequent respiratory tract infections (in particular otitis media); umbilical and inguinal hernia; intractable diarrhea; hepatosplenomegaly; and skin lesions resembling an orange peel (on the shoulder, back and thighs). [orpha.net]

    It is characterised by excretion of dermatan sulfate in the urine, growth retardation, lumbar kyphosis, sternal protrusion, genu valgum, usually hepatosplenomegaly, and no mental retardation. Onset occurs after two years of age. [kmle.co.kr]

    This disorder is characterized by mental retardation, coarse faces, short stature, hearing loss, hydrocephalus, hepatosplenomegaly, dysostosis multiplex, airway obstruction, and cardiac valve disease. [genome.jp]

  • Hepatomegaly

    The phenotype of the patient was severe, including joint stiffness, kyphosis, hepatomegaly, hypertrophic cardiomyopathy, moderate mental retardation, and bilateral hearing loss. [ncbi.nlm.nih.gov]

    Ivory-colored papular skin lesions on the upper back and sides of the upper arms Protuberant abdomen Diarrhea Short stature Skeletal deformities Joint stiffness Inguinal or umbilical hernia Developmental delay Intellectual disability Hyperactivity Seizures Hepatomegaly [symptoma.com]

    Individuals with this disorder may experience the following signs: abnormal retina, heart murmur and leaky heart valves, enlarged liver (hepatomegaly) enlarged spleen (splenomegaly), inguinal hernia, and joint contractures. [secure.ssa.gov]

    Synonym: type II mucopolysaccharidosis. (05 Mar 2000) type III mucopolysaccharidosis An error of the mucopolysaccharide metabolism, with excretion of large amounts of heparan sulfate in the urine and severe mental retardation with hepatomegaly; skeleton [kmle.co.kr]

    […] childhood [ more ] 0002376 Dysostosis multiplex 0000943 Enlarged tonsils 0030812 Flexion contracture of digit 0030044 Full cheeks Apple cheeks Big cheeks Increased size of cheeks Large cheeks [ more ] 0000293 Gingival overgrowth Gum enlargement 0000212 Hepatomegaly [rarediseases.info.nih.gov]

  • Aggressive Behavior

    The symptoms include aggressive behavior, hyperactivity, mental function decline, severe intellectual disability and spasticity. [secure.ssa.gov]

    In the early-onset, severe form, symptoms include: Aggressive behavior Hyperactivity Mental function gets worse over time Severe intellectual disability Jerky body movements In the late (mild) form, there can be mild to no mental deficiency. [medlineplus.gov]

    behavior Aggression Aggressive behaviour Aggressiveness [ more ] 0000718 Arrhythmia Abnormal heart rate Heart rhythm disorders Irregular heart beat Irregular heartbeat [ more ] 0011675 Hypertension 0000822 Impulsivity Impulsive 0100710 Large central [rarediseases.info.nih.gov]

  • Abnormal Behavior

    Abnormal behavior can develop in children with more-severe cases of Hunter syndrome. Often your child's mental development will become affected between the ages of 2 and 6. [mayoclinic.org]

  • Hyperactivity

    A prominent feature is neurological damage that presents as developmental delay and hyperactivity but progresses to mental retardation and dementia. [uniprot.org]

    The symptoms include aggressive behavior, hyperactivity, mental function decline, severe intellectual disability and spasticity. [secure.ssa.gov]

    […] media Broad chest Ivory-colored papular skin lesions on the upper back and sides of the upper arms Protuberant abdomen Diarrhea Short stature Skeletal deformities Joint stiffness Inguinal or umbilical hernia Developmental delay Intellectual disability Hyperactivity [symptoma.com]

    In the early-onset, severe form, symptoms include: Aggressive behavior Hyperactivity Mental function gets worse over time Severe intellectual disability Jerky body movements In the late (mild) form, there can be mild to no mental deficiency. [medlineplus.gov]

    In type A, systems include developmental delay; hepatosplenomegaly; ivory-colored skin lesions; coarse facies; skeletal deformities, including short stature, short neck, broad chest and macrocephaly; joint stiffness and carpal tunnel syndrome; hyperactivity [idph.state.il.us]

  • Seizure

    In addition, both had features not commonly seen in this disorder, e.g. early onset of seizures in one patient and ptosis in the other. [ncbi.nlm.nih.gov]

    Tonic–clonic seizures are the most common type of seizure in Hunter syndrome, but absent and myoclonic seizures have also been reported.15 It is possible that absence seizures (petit mal) are under-reported; neurologists should be aware of this and seek [touchneurology.com]

    He has short stature, webbing of his hands, pulmonary stenosis, seizures and hydrocephalus along with developmental delay. [ggc.org]

    Seizure 0001250 Stereotypy Repetitive movements Repetitive or self-injurious behavior [ more ] 0000733 Percent of people who have these symptoms is not available through HPO Abnormal heart valve morphology 0001654 Asthma 0002099 Cervical cord compression [rarediseases.info.nih.gov]

  • Communicating Hydrocephalus

    Communicating hydrocephalus can also be present and further contribute to neurological deterioration. Carrier-testing for individuals and families at risk is available. [symptoma.com]

    Communicating hydrocephalus does not occur as often, although papilledema has been seen in the absence of increased intracranial pressure, suggesting a localized process involving the optic nerves. [emedicine.medscape.com]

    which has been hypothesised to be due to impaired resorption of cerebrospinal fluid, occurs in 80–100 % of patients who have Hunter syndrome.17,20 It can be difficult to differentiate between communicating hydrocephalus, which requires prompt surgical [touchneurology.com]

    Mps iia usually occurs between 2 and 4 years of age with progressive deterioration, chronic diarrhea, recurrent ear infections, hearing impairment, communicating hydrocephalus with increased intracranial pressure, and death at about 10 and 15 years. [icd10data.com]

  • Stroke

    National Institute of Neurological Disorders and Stroke. 15 Nov 2017. Retrieved 11 May 2018. a b c d e f g Wraith JE, Scarpa M, Beck M, et al. (March 2008). [en.wikipedia.org]

  • Cervical Cord Compression

    cord compression 0002341 Congestive heart failure Cardiac failure Cardiac failures Heart failure [ more ] 0001635 Delayed eruption of teeth Delayed eruption Delayed teeth eruption Delayed tooth eruption Eruption, delayed Late eruption of teeth Late tooth [rarediseases.info.nih.gov]

  • Diarrhea

    Skeletal irregularities, vision problems, heart problems, diarrhea, joint stiffness, stunted growth and delayed development may be present. [symptoma.com]

    Initial manifestations include: frequent respiratory tract infections (in particular otitis media); umbilical and inguinal hernia; intractable diarrhea; hepatosplenomegaly; and skin lesions resembling an orange peel (on the shoulder, back and thighs). [orpha.net]

    […] mobility Limited joint motion [ more ] 0001376 Macrocephaly Increased size of skull Large head Large head circumference [ more ] 0000256 Short stature Decreased body height Small stature [ more ] 0004322 30%-79% of people have these symptoms Chronic diarrhea [rarediseases.info.nih.gov]

  • Abdominal Pain

    pain Blood in the stools Diarrhea Vomiting blood Symptoms of kidney (renal) mucormycosis include: Fever Pain in the upper abdomen or back Symptoms of skin (cutaneous) mucormycosis include a single, painful, hardened area of skin that may have a blackened [medlineplus.gov]

    The most frequently reported AEs included fever, headache, cough, pharyngitis, upper respiratory tract infection, nasal congestion, nausea, vomiting, abdominal pain, and diarrhea. The majority of AEs were mild or moderate in severity in all groups. [nature.com]

    Symptoms can include abdominal pain and vomiting of blood (hematemesis). Lesions can develop that cause a hole to form in the stomach or intestines (perforation). [rarediseases.org]

  • Abdominal Distension

    Color Doppler ultrasound of the abdomen showed no hepatosplenomegaly although abdominal distension was obvious. The boy also showed no impaired mental or psychomotor development. Neither of his parents showed any symptoms. [journals.lww.com]

    distension associated with thoracic deformities.5,7 The nervous system is also commonly affected in some types of MPS, and results in the occurrence of neural and/or spinal cord compression, eventually leading to cognitive impairment.8,9 These changes [scielo.br]

  • Macroglossia

    Oropharyngeal and tracheobronchial deposition of glycosaminoglycans results in airway obstruction due to macroglossia, supraglottic narrowing, and tracheomalacia. [symptoma.com]

    An enlarged tongue (macroglossia) and narrowing of the trachea results in upper respiratory infections and sleep apnea. As the syndrome develops, patients need medical assistance to keep their airway open. [transparencymarketresearch.com]

    Physical findings: • Coarse facial features; • Narrowing of the cervical spinal canal (spinal stenosis); • Enlarged tongue (macroglossia) and vocal cords; • Enlarged liver and spleen (hepatosplenomegaly); • Contractures of the joints; • Leaky heart valves [secure.ssa.gov]

    Increased size of cheeks Large cheeks [ more ] 0000293 Gingival overgrowth Gum enlargement 0000212 Hepatomegaly Enlarged liver 0002240 Hoarse voice Hoarseness Husky voice [ more ] 0001609 Inguinal hernia 0000023 Irregularity of vertebral bodies 0004582 Macroglossia [rarediseases.info.nih.gov]

  • Widely Spaced Teeth

    spaced teeth Wide-spaced teeth Widely-spaced teeth [ more ] 0000687 X-linked recessive inheritance 0001419 [rarediseases.info.nih.gov]

  • Retinal Pigmentation

    Abnormal retinal pigmentation and papilloedema - leading to visual impairment. Type B - mild form This usually presents later and may not be noticed until adulthood. [patient.info]

    pigmentation 0007703 Cardiomyopathy Disease of the heart muscle 0001638 Communicating hydrocephalus 0001334 Constrictive median neuropathy 0012185 Corneal opacity 0007957 Global developmental delay 0001263 Hip dysplasia 0001385 Hip osteoarthritis 0008843 [rarediseases.info.nih.gov]

  • Joint Stiffness

    Skeletal irregularities, vision problems, heart problems, diarrhea, joint stiffness, stunted growth and delayed development may be present. [symptoma.com]

    The phenotype of the patient was severe, including joint stiffness, kyphosis, hepatomegaly, hypertrophic cardiomyopathy, moderate mental retardation, and bilateral hearing loss. [ncbi.nlm.nih.gov]

    In both forms, symptoms include: Carpal tunnel syndrome Coarse features of the face Deafness (gets worse over time) Increased hair growth Joint stiffness Large head A physical exam and tests may show: Abnormal retina (back of the eye) Decreased iduronate [medlineplus.gov]

    Common presenting features include excess urinary glycosaminoglycan excretion, facial dysmorphism, organomegaly, joint stiffness and contractures, pulmonary dysfunction, myocardial enlargement and valvular dysfunction, and neurologic involvement. [pediatrics.aappublications.org]

  • Macrocephaly

    Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly). [secure.ssa.gov]

    Macrocephaly develops during infancy and infants initially grow at normal or above average rates. [orpha.net]

    Signs and symptoms of MPS 2A include: Macrocephaly Coarse facies Large rounded cheeks Thick lips Hypertrophic adenoids and tonsils Macroglossia Hoarse voice Short neck Retinal degeneration Hearing loss Recurrent otitis media Broad chest Ivory-colored [symptoma.com]

  • Skeletal Dysplasia

    skeletal dysplasia, short stature, corneal clouding, developmental delay 1:250,000[1] MPS IX Natowicz syndrome Hyaluronidase deficiency 601492 HYAL1 3p21.31 Hyaluronidase Hyaluronic acid Nodular soft-tissue masses around joints, episodes of painful [en.wikipedia.org]

    The characteristic skeletal dysplasia includes short stature, dysostosis multiplex, and degenerative joint disease. Birth prevalence is between 1 in 43,261 and 1 in 1,505,160 live births 33. [centogene.com]

    Manifestations of abnormal cell function include syndromic intellectual disability, growth failure, and skeletal dysplasia. GAGs accumulate in lysosomes and extracellular tissue and are excreted in the urine. [emedicine.medscape.com]

    Patients with MPS are often wheelchair-bound and physical handicaps increase with age as a result of progressive skeletal dysplasia, abnormal joint mobility, and osteoarthritis. [novapublishers.org]

  • Genu Valgum

    valgum, usually hepatosplenomegaly, and no mental retardation; onset occurs after 2 years of age. [drugs.com]

    It is characterised by excretion of dermatan sulfate in the urine, growth retardation, lumbar kyphosis, sternal protrusion, genu valgum, usually hepatosplenomegaly, and no mental retardation. Onset occurs after two years of age. [kmle.co.kr]

    MPS IVA patients with genu valgum, total (000s) Table 17. MPS IVA patients with eye problems, total (000s) Table 18. MPS IVA patients with a history of ear infections, total (000s) Table 19. [giikorea.co.kr]

    valgum, hypermobile joints Waddling gait with frequent falls Qualitative urine glycosaminoglycan (GAG) analysis demonstrates keratan sulfate and chondroitin 6-sulfate. [centogene.com]

    Clinical features related to bone lesions may include marked short stature, cervical stenosis, pectus carinatum, small lungs, joint rigidity (but laxity for MPS IV), kyphoscoliosis, lumbar gibbus, and genu valgum. [novapublishers.org]

  • Swollen Wrist Joints

    On examination, he was short statured, with a big head, protruding abdomen, coarse skin, swollen wrist joints, and clubbed fingers. There was mild mental retardation. [amhsr.org]

    On examination, they had short stature, big head, protruding abdomen, coarse skin, swollen wrist joints, and clubbed fingers. [mjdrdypu.org]

  • Hearing Impairment

    impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Contractures of the large joints 0005781 Decreased nerve conduction velocity 0000762 Developmental regression Loss of developmental milestones Mental deterioration in childhood [ [rarediseases.info.nih.gov]

  • Hearing Problem

    Hearing problems. Swollen and stiff joints. Abdominal hernias. Hepatosplenomegaly. [patient.info]

    He may be eligible for one-on-one attention in the classroom or help for other issues, like hearing problems. Take care of yourself, too. [webmd.com]

  • Hypertrichosis

    Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly). [secure.ssa.gov]

    Additional dermatological findings include hypertrichosis, thickened skin, and multiple Mongolian spots. Hypertrichosis may result in synophrys. [emedicine.medscape.com]

    The skin may also show hypertrichosis and excessive Mongolian spots. [ 6 ] Other features Macrocephaly - common with a short trunk length compared to the extremities. Short stature - develops gradually after the age of 3. [patient.info]

    […] more ] 0000268 Flexion contracture Flexed joint that cannot be straightened 0001371 Hearing impairment Deafness Hearing defect [ more ] 0000365 Heparan sulfate excretion in urine 0002159 Hydrocephalus Too much cerebrospinal fluid in the brain 0000238 Hypertrichosis [rarediseases.info.nih.gov]

  • Skin Thickening

    thickening, claw and shortened fingers (bradydactyly) with painless nodules. [amhsr.org]

  • Short Neck

    Many have short necks, a protuberant abdomen, a broad chest, and facial coarseness. Hepatosplenomegaly, hearing loss, hernias, and carpal tunnel syndrome are often present. [disorders.eyes.arizona.edu]

    Signs and symptoms of MPS 2A include: Macrocephaly Coarse facies Large rounded cheeks Thick lips Hypertrophic adenoids and tonsils Macroglossia Hoarse voice Short neck Retinal degeneration Hearing loss Recurrent otitis media Broad chest Ivory-colored [symptoma.com]

    In type A, systems include developmental delay; hepatosplenomegaly; ivory-colored skin lesions; coarse facies; skeletal deformities, including short stature, short neck, broad chest and macrocephaly; joint stiffness and carpal tunnel syndrome; hyperactivity [idph.state.il.us]

    Figure 1: shows Coarse facial features with depressed nasal bridge, a short neck, long philtrum. Figure 2: showing dorso lumbar scoliosis with anterior breaking at D12, L1,2,3 with ovoid shaped vertebra. [omicsonline.org]

    Thick skin, short neck, widely spaced teeth, and hearing loss of varying degree are also commonly present. Nodular skin lesions on the arm or the posterior chest wall, extra- high arched feet (pes cavus) and diarrhea may also occur. [rarediseases.org]

  • Thick Lips

    Signs and symptoms of MPS 2A include: Macrocephaly Coarse facies Large rounded cheeks Thick lips Hypertrophic adenoids and tonsils Macroglossia Hoarse voice Short neck Retinal degeneration Hearing loss Recurrent otitis media Broad chest Ivory-colored [symptoma.com]

    lips [ more ] 0012471 Umbilical hernia 0001537 5%-29% of people have these symptoms Abnormal aortic morphology 0001679 Abnormal epiphyseal ossification 0010656 Abnormal foveal morphology 0000493 Abnormal full-field electroretinogram 0030466 Abnormal [rarediseases.info.nih.gov]

  • Broad Nasal Bridge

    nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ [rarediseases.info.nih.gov]

  • Coarse Face

    Typical signs and symptoms include: Hearing impairment Joint stiffness Coarse face Upper airway disease Carpal tunnel syndrome Communicating hydrocephalus Retinal degeneration Some of these manifestations are seen in a lesser degree in MPS 2B compared [symptoma.com]

    This disorder is characterized by mental retardation, coarse faces, short stature, hearing loss, hydrocephalus, hepatosplenomegaly, dysostosis multiplex, airway obstruction, and cardiac valve disease. [genome.jp]

    At the age of 3 years 6 months, she had a coarse face, hearing loss, hepatosplenomegaly, severe thoracolumbar kyphosis, limitations of joint mobility, mental retardation, and mitroaortic valvular dysplasia, but no corneal clouding. [jmg.bmj.com]

  • Frontal Bossing

    Anteroposterior and lateral X-rays of the skull showed an calvarial thickening and depressed bridge of nose with frontal bossing with hypopneumatised mastoid ( Figure 3 ). [omicsonline.org]

    Systemic examination showed a distended abdomen, and his liver was 16 cm from xiphisternum which was tender with occipito-frontal circumference of 59 cm (macrocephaly), ridging of the sutures, widened nasal bridge, frontal bossing, capud quadratum, widely [amhsr.org]

The clinical diagnosis requires a thorough patient medical and family history and an examination of the clinical signs. The detection of increased levels of dermatan sulfate and heparan sulfate in the urine is followed by the definitive biochemical diagnosis of MPS 2 through enzyme testing in leukocytes, fibroblasts or plasma. To establish the extent of the disorder, the following tests are recommended:

Molecular genetic testing is usually not needed to establish a diagnosis.

  • Anisopoikilocytosis

    Blood film: Anisopoikilocytosis, microcytosis, hypochromia with pencil cells (showing iron deficiency). SEUC; urea: 20 mg/dl (2.5–6.4 mg/dl). [amhsr.org]

  • Microcytosis

    Blood film: Anisopoikilocytosis, microcytosis, hypochromia with pencil cells (showing iron deficiency). SEUC; urea: 20 mg/dl (2.5–6.4 mg/dl). [amhsr.org]

  • Enlargement of the Spleen

    Individuals with this disorder may experience the following signs: abnormal retina, heart murmur and leaky heart valves, enlarged liver (hepatomegaly) enlarged spleen (splenomegaly), inguinal hernia, and joint contractures. [secure.ssa.gov]

    There are some obvious physical signs of Hunter syndrome, such as coarse facial features and an enlarged liver and spleen, as well as some less noticeable symptoms. 2 Symptoms range from patient to patient but here are the key signs: 3 Hunter syndrome [rare2aware.com]

    Hydrocephalus, an enlarged liver and spleen and hernias occur often. Most patients with MPS 2 have progressive hearing loss and recurrent infections of the middle ear. [symptoma.com]

    […] liver Enlarged spleen Hernia in the groin Joint contractures (from joint stiffness) Tests may include: Enzyme study Genetic testing for a change in the iduronate sulfatase gene Urine test for heparan sulfate and dermatan sulfate The medicine called idursulfase [medlineplus.gov]

    Patients with this disorder often develop an enlarged liver and spleen (hepatosplenomegaly), a large head (macrocephaly) and fluid buildup in the brain (hydrocephalus), umbilical hernia or lower abdomen hernia (inguinal hernia). [transparencymarketresearch.com]

At this time, there is no curative treatment of MPS 2. The relevant enzyme can be administered to patients as enzyme replacement therapy and initiation should be done as early as possible [14] [15]. Bone marrow transplantation is another treatment modality [16] [17]. Cranial shunting should be performed in case of hydrocephalus. Hernia repair, carpal tunnel release, tonsillectomy and adenoidectomy, positive pressure ventilation or tracheostomy may be required. Cardiac valve or hip replacement may be necessary over the course of the disease. Developmental, physical, and occupational therapy are often beneficial. A multidisciplinary team approach is important in the management of MPS 2.

Affected individuals appear normal at birth, and age at presentation and progression of the disease vary. In MPS 2A life expectancy is markedly reduced and death frequently occurs in the first or second decade of life, usually due to respiratory or cardiac disease. In the milder form, patients may survive into adulthood, and their intelligence is frequently not affected.

The mucopolysaccharidoses are a group of inherited metabolic disorders caused by genetic defects that lead to the the absence or deficiency of one of the lysosomal hydrolases required for the degradation of glycosaminoglycans. Mucopolysaccharidosis type II is caused by a deficiency of iduronate sulfatase, which normally cleaves a sulfate group from the glycosaminoglycans dermatan sulfate and heparan sulfate. The undegraded glycosaminoglycans accumulate within the lysosomes of various organs and tissues, resulting in their dysfunction, producing a wide variety of progressive symptoms [6].

The incidence of the disorder varies. Schaap and Bach reported an incidence of 1 case per 34,000 males in Israel [7]. Young and Harper estimated the frequency of the disorder in the United Kingdom as about 1 in 132,000 male births [8]. 1 case per 111,000 was found in British Columbia [9]. Studies from Germany and the Netherlands reported an incidence of 1 case per 77,000 male births [10]. The severe form, MPS 2A, appears usually in children aged 2-4 years, while the mild form is frequently diagnosed later. Although this X-linked recessive condition occurs almost exclusively in males, it has also been reported to affect a small group of female individuals.

Mucopolysaccharidosis type II is an X-linked recessive disease caused by deficiency of the lysosomal enzyme iduronate sulfatase. This enzyme cleaves O-linked sulphate moieties from the glycosaminoglycans dermatan sulfate and heparan sulfate in the first step of their degradative pathway. The clinical phenotype of the condition is caused by progressive accumulation of undegraded glycosaminoglycans in nearly all cell types, tissues and organs.

Oropharyngeal and tracheobronchial deposition of glycosaminoglycans results in airway obstruction due to macroglossia, supraglottic narrowing, and tracheomalacia. In the course of the disease, also pulmonary restriction secondary to thoracic skeletal manifestations occurs. Valvular heart leaflets become dysfunctional due to glycosaminoglycan deposition, cardiomyopathy develops and, in conjunction with respiratory disorders, pulmonary hypertension occurs. Bone and joint involvement leads to skeletal deformities and joint stiffness. Central nervous system involvement depends on the form and may include learning difficulties and psychomotor regression. Communicating hydrocephalus can also be present and further contribute to neurological deterioration.

Carrier-testing for individuals and families at risk is available.

Mucopolysaccharidosis type II (MPS 2), also known as Hunter syndrome or Iduronate 2-Sulfatase Deficiency, is an inherited metabolic disorder caused by deficiency of the lysosomal enzyme iduronate sulfatase, characterized by accumulation of glycosaminoglycans (GAG). The location of the causative gene is Xq28 and more than 300 mutations have been reported to cause the disorder. It is an X-linked recessive condition and expected to be found in males, but on rare occasions, affected females have been reported. Two types of MPS 2 exist, the severe form MPS 2A and the milder form MPS 2B [1] [2].

Mucopolysaccharidosis type II is a multisystem disorder and symptoms include coarse face, short stature, skeletal abnormalities, recurrent infections, cardiomyopathy, hepatomegaly, umbilical and inguinal hernia, diarrhea, developmental delay, and intellectual disability [2]. To establish a diagnosis, the detection of increased levels of dermatan sulfate and heparan sulfate in the urine is followed by the definitive biochemical diagnosis of MPS 2 through enzyme testing in leukocytes, fibroblasts or plasma [3] [4] [5]. Molecular genetic testing may also be useful. Enzyme replacement therapy (ERT), bone marrow transplantation and management of the complications are the main treatment options.

Mucopolysaccharidosis type II (MPS 2), also known as Hunter syndrome, I2S deficiency or Iduronate 2-sulfatase deficiency, is a progressive, inherited condition that affects many different organs and occurs almost only in males. At birth, affected individuals do not have any symptoms. They develop either in childhood or adolesense, because there are two types of MPS 2.

Common signs and symptoms include a large head, full lips, large rounded cheeks, a broad nose, hoarse voice and an enlarged tongue (macroglossia). Upper respiratory infections and sleep apnea are frequent. Hydrocephalus, an enlarged liver and spleen and hernias occur often. Most patients with MPS 2 have progressive hearing loss and recurrent infections of the middle ear. Skeletal irregularities, vision problems, heart problems, diarrhea, joint stiffness, stunted growth and delayed development may be present. The more severe type of MPS 2 is characterized by a decline in intellectual function and a more rapid progression.

The diagnosis can be made by examination of urine and blood, a genetic analysis can confirm it. The treatment focuses on managing signs and symptoms and depends also on the organs affected and the form of the disease. Intravenous enzyme replacement therapy (ERT) has been shown to alleviate symptoms.

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