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101 Possible Causes for Hypertrichosis of Eyebrows, Muscle Hypotonia

  • Wiedemann-Steiner Syndrome

    […] tone ( hypotonia ).[en.wikipedia.org] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[orpha.net] Facial characteristics include long eyelashes, thick or arched eyebrows with a lateral flare, and downslanting and vertically narrow palpebral fissures.[uniprot.org]

  • Coffin-Lowry Syndrome

    Muscle hypotonia and decreased or abolished muscle stretch reflexes are noted, whereas eye movements and sometimes verbal communication are possible. 8 TABLE 2.[pediatrics.aappublications.org] Low or weak muscle tone 0001252 Neurological speech impairment Speech disorder Speech impairment Speech impediment [ more ] 0002167 Open mouth Gaped jawed appearance Gaped[rarediseases.info.nih.gov] ), lax ligamenta, vertebral anomalies, hypotonia, and peculiar facies and digits.[whonamedit.com]

  • Rubinstein-Taybi Syndrome

    In addition, there may be diminished muscle tone (hypotonia), abnormally exaggerated reflexes (hyperreflexia), a stiff, unsteady gait, infrequent bowel movements (constipation[rarediseases.org] The common abnormalities include hypertrichosis and hirsuitism,heavy eyebrows, prominent beaked nose,hypoplastic maxilla, lowest ears and skeletal anomalies including broad[ispub.com] […] iliac wings 0002869 Flexion contracture 0001371 Frontal bossing 0002007 Frontal upsweep of hair Cowlick Frontal Cowlick Upswept frontal hair [ more ] 0002236 Generalized hypotonia[rarediseases.info.nih.gov]

  • Marshall-Smith Syndrome

    Other symptoms include diminished muscle tone (hypotonia), muscle weakness, hernias in the abdomen (umbilical hernias), and/or mental retardation.[rarediseases.org]

  • Alpha-Mannosidosis

    (hypotonia), and reduced sensation or other nervous system abnormalities in the extremities (peripheral neuropathy).[ismrd.org] Symptoms of the moderate form of alpha-mannosidosis include: coarse facial features hypotonia skeletal abnormalities mental retardation progressive muscle weakness hearing[egl-eurofins.com] In this report, the most common presenting symptom was hypotonia (75%), and muscle weakness was a presenting symptom in 59% of patients.[emedicine.medscape.com]

  • Autosomal Dominant Mental Retardation Type 21

    A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.[mitomap.org] […] that grow together (synophrys); long, curly eyelashes; and/or excessive hair growth on various areas of the body (hypertrichosis).[rarediseases.org] […] weakness Central hypotonia Dementia Increased CSF lactate Generalized tonic seizures Epilepsia partialis continua Visual loss Talipes cavus equinovarus Focal T2 hypointense[mendelian.co]

  • Beckwith-Wiedemann Syndrome

    […] nasal bridge, hypoplastic philtrum and prominent jaw, low posterior hairline, and hypertrichosis.[ncbi.nlm.nih.gov] The patient had mild psychomotor delay and a peculiar facial appearance, with horizontal eyebrows with synophrys, downslanting palpebral fissures with epicanthic folds, narrow[ncbi.nlm.nih.gov]

  • Tenorio Syndrome

    […] atrophy Mitral valve prolapse Hydrocephalus Raynaud phenomenon Arrhythmia Aortic regurgitation Mask-like facies Neonatal hypotonia Cerebral cortical atrophy Cerebral palsy[mendelian.co] Anxiety Delayed speech and language development Osteopenia Hypertrichosis Keratoconjunctivitis sicca Intellectual disability Seizures Muscular hypotonia Syncope ... ...[familydiagnosis.com] Syncope. may also develop some of the following symptoms: Uncommon Symptoms - Between 30% and 50% cases Seizures Rare Symptoms - Less than 30% cases Dilatation Skeletal muscle[mendelian.co]

  • Qazi-Markouizos Syndrome

    , Flaccid; Muscle Tone, Decreased; Muscle Tone Atonics; Muscle Hypotony; Hypotonias, Unilateral; Hypotonias, Neonatal; Hypotonia, Unilateral; Hypotonia, Neonatal; Hypotonia[reference.md] The coarse facial features and hypertrichosis of the eyebrows may not be present at birth but may develop after early infancy.[link.springer.com] […] retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibres.[rarediseases.info.nih.gov]

  • Short Stature - Optic Atrophy - Pelger-Huët Anomaly Syndrome

    NBAS-related SOPH Syndrome with Immunodeficiency in a North American Patient Ann Haskins Olney, MD 1 , Hana B Niebur, MD 2 1 Genetic Medicine Munroe-Meyer Institute for Genetics and Rehabilitation University of Nebraska Medical Center Omaha, Nebraska 2 Division of Allergy – Immunology Children’s Hospital and Medical[…][epostersonline.com]

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