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. [en.wikipedia.org]

[…] 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 and splenomegaly [rheumatology.oxfordjournals.org]

In more severe cases, there may be developmental delay. The severe form of MPS 7 can uniquely present at birth with hydrops fetalis (severe generalized edema). [ultragenyx.com]

Affected individuals may have developmental delay and progressive intellectual disability, although intelligence is unaffected in some people with this condition. [ghr.nlm.nih.gov]

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]

Patients with MPS 7 may experience joint stiffness, short stature, an enlarged spleen and liver and heart / lung complications. MPS 7 also causes a characteristic facial appearance and can lead to a progressive skeletal dysplasia. [ultragenyx.com]

MPS VII causes various skeletal abnormalities that become more pronounced with age, including short stature and joint deformities (contractures) that affect mobility. [ghr.nlm.nih.gov]

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

MPS II is found almost exclusively in young males and is clinically characterized by short stature, hepatosplenomegaly, joint contractures, and coarse facies. [centogene.com]

Features of MPS VII are large head coarse facial features large tongue enlarged liver and spleen heart valve abnormalites umbilical hernia may have narrow airways cloudy cornea may have ear infections and hearing loss may have narrowing of the spinal [ldnz.org.nz]

The child had coarse facial features, corneal clouding, depressed nasal bridge, large tongue and high arched palate with a 2-cm mouth opening [Figure 1]. Parents did not reveal any history of snoring or apneic episodes while sleeping. [joacp.org]

The most common clinical manifestations of MPS I include the following: Characteristic coarse facial features Frequent upper-respiratory infections and otitis media Hepatosplenomegaly Inguinal or umbilical hernia Characteristic skeletal and joint findings [centogene.com]

Intralysosomal accumulation of these substrates results in pathological processes that produce a progressive dysfunction resulting in multiorgan deterioration that includes hepatosplenomegaly, dysostosis multiplex, short stature, coarse facial features [surgicalneurologyint.com]

Affected individuals also frequently develop an enlarged liver and spleen (hepatosplenomegaly), heart valve abnormalities, and a soft out-pouching around the belly-button (umbilical hernia ) or lower abdomen (inguinal hernia). [ghr.nlm.nih.gov]

Umbilical and inguinal hernias frequently occur in MPS due to abdominal protuberance from hepatosplenomegaly and ineffective connective tissue support of the anterior abdominal wall. [joacp.org]

hernia Frequent upper respiratory infections, otitis media, hearing loss Sleep apnea Cloudy corneas and vision loss. [centogene.com]

hernias, chronic diarrhoea, CTS [ 34 ], communicating hydrocephalus and spinal cord compression. [rheumatology.oxfordjournals.org]

We found ear, nose and throat manifestations in all types of MPS; in particular, recurrent otitis media was present in 30% of cases, hearing loss in 75% (mixed in 43.33%, conductive in 43.33%, sensorineural in 13.33%), adenotonsillar hypertrophy in 75% [ncbi.nlm.nih.gov]

Recurrent otitis media (middle ear infections) significantly contribute to hearing loss in individuals with MPS. Prescription medications are used to treat otitis media. [encyclopedia.com]

[…] to thrive, intellectual disability, and developmental delay.[ 5 12 ] The extensive storage of these glycosaminoglycans is also known to cause meningeal thickening.[ 4 ] Intraoperatively, our patient was noted to have thickened arachnoid membrane, which [surgicalneurologyint.com]

Clinical description Clinical signs are extremely variable: there are prenatal forms with non-immune hydrops fetalis, and severe neonatal forms with dysmorphism, hernias, hepatosplenomegaly, club feet, dysostosis, severe hypotonia and neurological disorders [orpha.net]

Affected individuals also frequently develop an enlarged liver and spleen (hepatosplenomegaly), heart valve abnormalities, and a soft out-pouching around the belly-button (umbilical hernia ) or lower abdomen (inguinal hernia). [ghr.nlm.nih.gov]

The Phase 3 study will also evaluate the safety and tolerability of rhGUS, pulmonary function, walking, stair climb, shoulder flexion, fine and gross motor function, hepatosplenomegaly, cardiac size and function, visual acuity, patient and caregiver assessment [biospace.com]

Coarse facies, mild dysostosis multiplex, hepatosplenomegaly and joint contractures may also be present. There is considerable variation in onset and severity of the clinical phenotype even within a sibship. [genedx.com]

MPS II is found almost exclusively in young males and is clinically characterized by short stature, hepatosplenomegaly, joint contractures, and coarse facies. [centogene.com]

Hepatomegaly occurs in the gastrointestinal system. Splenomegaly occurs in the hematopoietic system. [en.wikipedia.org]

Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment. [genecards.org]

Somatic manifestations such as hepatomegaly, dysostosis multiplex, coarse facies and hypertrichosis are relatively mild compared to the other mucopolysaccharidoses. [invitae.com]

Ultrasound abdomen showed moderate hepatomegaly. The echocardiogram showed mitral valve prolapse with moderate mitral regurgitation and tricuspid valve collapse with mild tricuspid regurgitation. [neurologyindia.com]

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]

More than half of infants with hydrops fetalis do not survive beyond early infancy. Some adults with MPS 7 can have a less severe physical or skeletal disease. [ultragenyx.com]

The most severe cases of MPS VII are characterized by hydrops fetalis, a condition in which excess fluid builds up in the body before birth. Most babies with hydrops fetalis are stillborn or die soon after birth. [ghr.nlm.nih.gov]

The most severe cases of MPS VII are characterized by hydrops fetalis, a condition in which excess fluid builds up in the body before birth. Most babies with this condition are stillborn or die soon after birth. [ldnz.org.nz]

Clinical description Clinical signs are extremely variable: there are prenatal forms with non-immune hydrops fetalis, and severe neonatal forms with dysmorphism, hernias, hepatosplenomegaly, club feet, dysostosis, severe hypotonia and neurological disorders [orpha.net]

Fetal deaths due to nonimmune hydrops fetalis have been noted. In mild cases, survival to age 19-20 years has been reported. [emedicine.medscape.com]

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 coloboma in the nose: [en.wikipedia.org]

Neurological signs and symptoms that may be evident in patients having either the neuronopathic or non-neuronopathic phenotypes include seizures, optic nerve compression, hearing impairment, sleep apnoea, hydrocephalus, carpal tunnel syndrome, spinal [touchneurology.com]

Patients with MPS 7 may experience joint stiffness, short stature, an enlarged spleen and liver and heart / lung complications. MPS 7 also causes a characteristic facial appearance and can lead to a progressive skeletal dysplasia. [ultragenyx.com]

For example, physical therapy may help preserve joint function for individuals with joint stiffness. Joint stiffness is present in all of the MPS disorders except MPS IV and MPS IX. [encyclopedia.com]

The features of MPS VII include a large head ( macrocephaly ), a buildup of fluid in the brain (hydrocephalus), distinctive-looking facial features that are described as " coarse ," and a large tongue ( macroglossia ). [ghr.nlm.nih.gov]

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 coloboma in the nose: [en.wikipedia.org]

Other forms of MPS VII are less severe and present during early childhood and are characterized by the following signs and symptoms: Macrocephaly and hydrocephalus Distinctive facial features and macroglossia Hepatosplenomegaly Cardiac valve abnormalities [centogene.com]

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

A 7-year-old girl with Morquio syndrome and typical severe genu valgum. Courtesy of Dennis P. Grogan, MD. [emedicine.medscape.com]

Skeletal abnormalities can be extreme and include dwarfism, kyphosis (outward-curved spine), prominent breastbone, flat feet, and genu-valgum (knock-knees). [encyclopedia.com]

Somatic manifestations such as hepatomegaly, dysostosis multiplex, coarse facies and hypertrichosis are relatively mild compared to the other mucopolysaccharidoses. [invitae.com]

Patient had virilization of the external genitalia with hirsutism and masculine voice. Patient had ambiguous genitalia. There was history of unexplained sibling death in the family at 1 year of age. [joacp.org]

Airway evaluation: abnormal neck anatomy, short neck with limited mobility, hyromental and thyromentonian distance less than 6 cm, severely limited jaw protrusion, mouth opening inferior to 6 cm, mallampati IV and snoring. [omicsonline.org]

She had dysmorphic facial features, macroglossia, a short neck, a low hair line, a high arched palate, corneal haziness, Mongolian spots over back, exaggerated thoracic kyphosis, and short stout fingers. [neurologyindia.com]

Figure 1: (a - c) Magnetic resonance image showing scaphocephaly with frontal bossing and bilateral frontotemporal atrophy; (d - f) computed tomography surface shaded display showing craniosynostosis involving metopic, sagittal and bilateral lambdoid [neurologyindia.com]

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]

In March, the drug failed a mid-stage study testing it as a seizure medication for Glut1 DS patients. [biopharmadive.com]

Additional clinical symptoms include intellectual disability, progressive neurologic symptoms including aggressive behavior, poor coordination, seizures and hearing loss. [genedx.com]

SEIZURES Seizures are a problem found in severe forms of MPS and especially in MPS III (Sanfilippo syndrome). Patients with seizures are given a type of prescription medication known as an anticonvulsant. [encyclopedia.com]