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80 Possible Causes for Hyperreflexia, Hypertrichosis of Eyebrows

  • Rubinstein-Taybi Syndrome

    Defects in motor skills and coordination, sometimes accompanied with hypotonia and hyperreflexia may be seen.[symptoma.com] The common abnormalities include hypertrichosis and hirsuitism,heavy eyebrows, prominent beaked nose,hypoplastic maxilla, lowest ears and skeletal anomalies including broad[ispub.com] In addition, there may be diminished muscle tone (hypotonia), abnormally exaggerated reflexes (hyperreflexia), a stiff, unsteady gait, infrequent bowel movements (constipation[rarediseases.org]

  • Alpha-Mannosidosis

    Alpha-mannosidosis is a lysosomal storage disorder, first described by Swedish physician Okerman in 1967. In humans it is known to be caused by an autosomal recessive genetic mutation in the gene MAN2B1, located on chromosome 19, affecting the production of the enzyme alpha-D-mannosidase, resulting in its deficiency.[…][en.wikipedia.org]

  • Xanthinuria

    Molybdenum cofactor deficiency The other inherited form of xanthinuria, termed molybdenum cofactor deficiency, presents in the neonatal period with microcephaly, hyperreflexia[emedicine.medscape.com] A macroscopic skin examination revealed congenital hypertrichosis as lanugo on his face, mainly on his upper lip, left eyebrow, and shoulder (images not shown).[jmg.bmj.com]

  • Autosomal Recessive Mental Retardation Type 5

    It was described in 1934 by Folling in 10 children with ID, hypertonia, and hyperreflexia, with a musty odor in urine and sweat.[emedicine.medscape.com]

  • Fucosidosis

    Fucosidosis, a progressive neurodegenerative disease, evident in early childhood, is associated with progressive loss of mental and motor function and increasing spasticity and hyperreflexia[ncbi.nlm.nih.gov] Additional findings, reported in more than 50 percent of patients, include seizures, hyperreflexia, and ataxia.[ommbid.mhmedical.com]

  • Wiedemann-Steiner Syndrome

    […] hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia[mendelian.co] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[orpha.net] Syndactyly Stereotypy Abnormality of the skeletal system Short palpebral fissure Hearing impairment Round face Highly arched eyebrow Dysphagia Long eyelashes Dysostosis multiplex Hyperreflexia[mendelian.co]

  • Marshall-Smith Syndrome

    At neurologic examination, central hypotonia and hyperreflexia were detected. She died at the 17th day of live due to respiratory failure. Patient 4.[nature.com] […] disability, recurrent convulsive seizures, excessive growth of the body, large hands and feet, cubitus valgus, crus varum, advanced bone age, funnel chest, kyphoscoliosis, tendon hyperreflexia[nature.com]

  • Dursun Syndrome

    […] started or increased prior to symptoms Four major or three major plus two minor signs Other aetiologies ruled out Major criteria Impaired consciousness Elevated mood Myoclonus Hyperreflexia[emed.ie] […] of the medial eyebrows (synophyrys), white forelock, heterchromia iridis, and deafness.[neoreviews.aappublications.org] The most common symptoms of SS are widespread myoclonus, tremor, hyperreflexia, diaphoresis, flushing and clonus (Gelender et al., 2011; Hall, 2003).[omicsonline.org]

  • Warburg Sjo Fledelius Syndrome

    - - Joint contractures 0002803 - Foot deformities 0001760 - - - Hair Facial hypertrichosis 0002219 - - - Neurologic Intellectual deficit 0001249 Optic atrophy 0000658 - Hyperreflexia[ojrd.biomedcentral.com] Clinical features also included microcephaly, frontal hypertrichosis, sparse and up-slanted eyebrows, hypotelorism, short palpebral fissures, bulbous nose, arched palate,[omicsonline.org] He had microcephaly, narrow face, sparse eyebrows, frontal hypertrichosis, palpebral pseudoptosis, ogival palate, bulbous nose, short philtrum, asymmetric large ears and tapering[omicsonline.org]

  • Fitzsimmons-Guilbert Syndrome

    SPG2 is characterized by spastic gait and hyperreflexia.[nectarmutation.org] A down sloping V-shaped configuration of the eyebrows as they met and extended onto the upper part of the nasal bridge is common. Brow hypertrichosis may be observed.[entokey.com] Hyperreflexia and spasticity develop early while ataxia, urinary sphincter disturbances, extensor plantar responses, and dysarthria appear later.[disorders.eyes.arizona.edu]

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