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291 Possible Causes for Failure to Thrive, Hand Stiffness, Progressive Contractures

  • CAMFAK Syndrome

    […] microcephaly Short chin Phimosis Brisk reflexes Achilles tendon contracture Wide nasal bridge Delayed speech and language development Polymicrogyria Decreased muscle mass[mendelian.co] Diseases related to Cataract, Microcephaly, Failure to Thrive, Kyphoscoliosis Syndrome via text searches within MalaCards or GeneCards Suite gene sharing: Human phenotypes[malacards.org] […] person syndrome practical neurology . hand foot and mouth disease wikipedia . stiff person syndrome center . stiff man syndrome presenting with low back pain annals of the[300blackbroth.com]

  • Farber Disease

    These manifestations are very painful and lead to progressive joint stiffness, limitation of motion by contractures and finally to immobilization and deformation of joints[flipper.diff.org] Severe cognitive disability, failure to gain motor skills, failure to thrive, and joint contractures developed.[ncbi.nlm.nih.gov] The classic phenotype presents at around 3-6 months of age with painful, swollen and stiff joints of the hands and feet, prominent subcutaneous nodules over pressure points[orpha.net]

  • Valinemia

    PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A Is also known as pch2, pontocerebellar hypoplasia with progressive cerebral atrophy, volendam neurodegenerative disease Related[mendelian.co] Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening.[malacards.org] Dysplasia Tarda Sporadic Inclusion Body Myositis Sporadic Porencephaly Sprengel Deformity Status Epilepticus Stenosis, Spinal Stevens Johnson Syndrome Stickler Syndrome Stiff[arrayit.com]

  • Geleophysic Dysplasia

    Geleophysic dysplasia is a rare, frequently lethal condition characterized by severe short stature with progressive joint contractures, cardiac, pulmonary, and skin anomalies[bioportfolio.com] Geleophysic Dysplasia is characterised by extremely short stature, small hands and feet, failure to thrive and accompanying physical disabilities including progressive heart[mpssociety.org.uk] , stiff joints, skin thickening, facial anomalies, normal intelligence and skeletal abnormalities.[ncbi.nlm.nih.gov]

  • Spinal Muscular Atrophy with Respiratory Distress Type 1

    Congenital SMA with arthrogryposis Congenital SMA with arthrogryposis (persistent contracture of joints with fixed abnormal posture of the limb) is a rare disorder.[slideshare.net] The patient initially presented intrauterine growth retardation, poor sucking, failure to thrive, and respiratory failure at the age of two months, and an inborn error of[ncbi.nlm.nih.gov] , weakness and spasticity of legs Tripping, difficulty in maintaining balance Weakness and stiffness that progresses towards the trunk and subsequently to the arms, hands,[thehumanthebody.com]

  • Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome

    AMC is considered a non-progressive disorder. With physical therapy, the contractures frequently improve dramatically![web.archive.org] Additional features include severe failure to thrive, platelet dysfunction (which may be responsible for severe bleeding), facial dysmorphism (low set ears, lax skin, a high[rarediseases.info.nih.gov] 0000954 Stiff shoulders 0009742 Trismus Lockjaw 0000211 Ulnar deviation of the hand or of fingers of the hand 0001193 Showing of 30 Last updated: 6/1/2019 Making a diagnosis[rarediseases.info.nih.gov]

  • Glycogen Storage Disease

    (40%): Shoulders; Hips; Knees; Neck Weight loss Smooth muscle: Urinary or Fecal incontinence Hearing loss Course Progressive Disability related to disease duration 14 Disability[neuromuscular.wustl.edu] BACKGROUND: Glycogen storage disease type VI (GSD-VI) presents with failure to thrive and also fibrosis in some cases, without cirrhosis.[ncbi.nlm.nih.gov] We report a 25-year-old man with glycogenosis III who presented with a progressive 2 year history of fatigue, hand stiffness and cramping.[ncbi.nlm.nih.gov]

  • Lenz-Majewski Syndrome

    Knee contractures result in a 'horse-riding stance.' There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation.[mendelian.co] The disorder is characterized by failure to thrive and mental retardation.[doi.org] […] to thrive, mental retardation, sparse hair, enamel hypoplasia, loose skin, and skeletal abnormalities.[accessanesthesiology.mhmedical.com]

  • Progeria

    During the first to third year the following usually become apparent: partial alopecia progressing to total alopecia, loss of subcutaneous fat, progressive joint contractures[flybase.org] […] to thrive.[ncbi.nlm.nih.gov] […] in the hands, feet, and back.[nature.com]

  • Junctional Epidermolysis Bullosa

    A characteristic feature of RDEB-HS is the development of progressive acral contractures and partial or complete mitten deformities (pssudosyndactyly) of the hands and feet[rafisrun.com] Despite successful surgical repair of the anatomical defect, the outcome is poor owing to poor feeding, malabsorption, failure to thrive, and sepsis.[ncbi.nlm.nih.gov] Children can develop deformities caused by the recurrent scarring of the fingers and toes (pseudosyndactyly) and the hands and arms become fixed in stiff positions (contractures[stanfordchildrens.org]

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