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558 Possible Causes for Joint Stiffness, Mental Retardation, Round Face

  • Mucopolysaccharidosis 2

    […] resulting in large rounded cheeks and thick lips – generally manifests between ages 18 months and four years in the early progressive form and about two years later for those[ncbi.nlm.nih.gov] Bone and joint involvement leads to skeletal deformities and joint stiffness.[symptoma.com] Diseases Nervous System Diseases Neurologic Manifestations Neurobehavioral Manifestations Mental Retardation Mental Retardation, X-Linked[hon.ch]

  • Mucopolysaccharidosis

    stiffness, and heart disease MPS IS - Aortic valve disease, corneal clouding, and joint stiffness; normal intelligence and stature MPS II (severe) – Pebbly ivory skin lesions[emedicine.medscape.com] The above data could reflect the reduced heparan sulfate storage in her tissues and organs, and in particular in the brain, consequently explaining her moderate mental retardation[ncbi.nlm.nih.gov] A typical clinical presentation includes such symptoms and characteristics as short stature, facial dysmorphism, skeletal deformities, pulmonary dysfunction, joint stiffness[ncbi.nlm.nih.gov]

  • Congenital Muscular Dystrophy

    CMD results in overall muscle weakness with possible joint stiffness or looseness.[mda.org] CONCLUSIONS: Mutations within the FKRP gene can result in CMD associated with mental retardation and cerebellar cysts.[ncbi.nlm.nih.gov] There may be stiff joints (contractures) due to the baby not being able to move the joints enough.[patient.info]

  • Mucopolysaccharidosis 1

    Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info] Retardation Syndromes 463 L1454611no S1740173 Y alpha-L-iduronidase (IDA, IDUA) deficiency English(JABL) Congenital Mental Retardation Syndromes 463 L1455479no S1741179 Y[doctor.am] stiffness The cause of MPS I is inherited genetic mutations on chromosome 4 that leads to deficiency in the lysosomal enzyme a-L-iduronidase.[medicinenet.com]

  • Fibrodysplasia Ossificans Progressiva

    There is fixed scoliotic deformity with the primary curvature facing right side at dorsolumbar junction. Associated with it is round kyphotic deformity.[ispub.com] Tissue swelling, joint stiffness and serious discomfort can occur. Some may have a low-grade fever. Flare-ups can last as long as six to eight weeks.[ucsfbenioffchildrens.org] Occasional features include short thumbs, fifth finger clinodactyly, malformed cervical vertebrae and mild mental retardation.[ncbi.nlm.nih.gov]

  • Autosomal Recessive Spastic Paraplegia Type 49

    This HSP is characterized by early onset of spastic paraplegia, motor development delaying, mental retardation, dysmorphic features (short stature, round face, low anterior[intechopen.com] joints and Short stature syndrome Methemoglobinemia, beta-globin type Landau-Kleffner syndrome Tetrasomy 9p Brachydactylous dwarfism Mseleni type Synovial chondromatosis,[checkrare.com] Retardation, Autosomal Dominant 23 Mental Retardation, Autosomal Dominant 29 Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skinanomalies Mental Retardation[familydiagnosis.com]

  • Spondyloepiphyseal Dysplasia Type Cantú

    : long philtrum round face midface hypoplasia coarse facies Skeletal Hands: brachydactyly short hands small carpals short, tapered phalanges single interphalangeal crease[malacards.org] Dwarfism stiff joint ocular abnormalities 0 *Dwarfism *Eye Abnormalities *Hand Deformities, Congenital *Joint Diseases.[reference.md] Laplane Fontaine Lagardere syndrome Laron Syndrome GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY Laron syndrome type 2 Megaepiphyseal dwarfism Mental retardation, macrocephaly[sites.google.com]

  • Cerebral Palsy with Spastic Diplegia

    […] increased muscular components and joint stiffness.[journals.plos.org] Others suffer from associated medical disorders, such as seizures and mental retardation. Spastic CP is the most common type of cerebral palsy.[healthcommunities.com] […] position near the face as the head turns round • Stage 3 – Contralateral stage - Prone lying -Head turned to side, arm on the face side as in stage 2 -Leg on the face side[physiotherapy-treatment.com]

  • Pfeiffer-Palm-Teller Syndrome

    Stiffness, and High-Pitched Voice Annotation Sufficiency: ?[monarchinitiative.org] […] deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Joint stiffness Stiff joint Stiff joints [ more ] 0001387 Short stature[rarediseases.info.nih.gov] Ventriculomegaly Smooth philtrum Cerebral visual impairment Febrile seizures Optic disc pallor Tapered finger Protruding ear Thin vermilion border Reduced visual acuity Round[mendelian.co]

  • Marchesani-Weill Syndrome

    face in stiff attitude, hypertelorism, depressed nasal bridge, osteoporosis, short and stubby hands, fingers, feet, and toes (brachydactyly; Fig. 1 ), restricted articular[link.springer.com] English Weill-Marchesani syndrome autosomal genetic disease characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and[wikidata.org] Mnemonic-6S – S- S pherophakia(microspherophakia-round and small lens) S-S hort Stature S-Short and Stubby fingers(brachydactyly) S-S tupid(mental retardation) S-S ubluxation[simplyeye.net]

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