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177 Possible Causes for Hypertrichosis of Eyebrows, Spinocerebellar Tract Disease in Lower Limbs

  • 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]

  • Wiedemann-Steiner Syndrome

    […] 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] Wiedemann-Steiner syndrome Disease definition Wiedemann-Steiner syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis[orpha.net]

    Missing: Spinocerebellar Tract Disease in Lower Limbs
  • Coffin-Lowry Syndrome

    Summary Clinical characteristics. Coffin-Lowry syndrome (CLS) is usually characterized by severe-to-profound intellectual disability in males; less severely impaired individuals have been reported. Neuropsychiatric concerns can include behavioral problems, loss of strength, progressive spasticity or paraplegia, sleep[…][ncbi.nlm.nih.gov]

    Missing: Spinocerebellar Tract Disease in Lower Limbs
  • Rubinstein-Taybi Syndrome

    The common abnormalities include hypertrichosis and hirsuitism,heavy eyebrows, prominent beaked nose,hypoplastic maxilla, lowest ears and skeletal anomalies including broad[ispub.com] The clinical data of our cohort evidenced frequent signs such as arched eyebrows, epicanthus, synophrys and/or frontal hypertrichosis and broad phalanges that, previously[ncbi.nlm.nih.gov] , microcephaly, broad thumbs and hallux which are often angulated, hyper-extensive joints, small tilted pelvis, hypertrichosis, and undescended testes. [2] Current literature[faoj.org]

    Missing: Spinocerebellar Tract Disease in Lower Limbs
  • Fucosidosis

    Fucosidosis is an extremely rare, autosomal recessive lysosomal storage disease, characterized by a deficiency of the lysosomal hydrolase alpha fucosidase. We report a case of a 6-year-old child, diagnosed with fucosidosis type 2, who presented for dental rehabilitation under general anesthesia. Anesthesia was[…][ncbi.nlm.nih.gov]

    Missing: Spinocerebellar Tract Disease in Lower Limbs
  • Cerebro-Facio-Thoracic Dysplasia

    ), a narrow forehead and a short nose; there are also hypertrichosis (espec- ially posteriorly) and mental retardation.[vdocuments.site] The facial appearance in the de Lange syndrome is very similar to that found in cerebro-facio-thoracic dysplasia, for there is synophrys (joining of the eyebrows in midline[vdocuments.site]

    Missing: Spinocerebellar Tract Disease in Lower Limbs
  • Marshall-Smith Syndrome

    - A dictionary of medical eponyms Related people David Weyhe Smith Richard E. Marshall A syndrome of motor and mental retardation, accelerated skeletal maturation, failure to thrive, and abnormal facies. The clinical course is marked mainly by pneumonia, stridor, respiratory distress, and death. The aetiology is[…][whonamedit.com]

    Missing: Spinocerebellar Tract Disease in Lower Limbs
  • Sick Sinus Syndrome

    Additional features may include thick eyebrows, long eyelashes, and generalized excessive hair growth (hypertrichosis) with the exception of the scalp hair, which tends to[rarediseases.org] […] and eyelashes or excess hair growth in unusual places such as the back (hypertrichosis); and sparse scalp hair.[rarediseases.org] […] malformations may include an abnormally small head (microcephaly) or large head (macrocephaly); a wide nose with a low nasal bridge; a wide mouth with thick, prominent lips; thick eyebrows[rarediseases.org]

    Missing: Spinocerebellar Tract Disease in Lower Limbs
  • Acquired Hypertrichosis Lanuginosa

    Hypertrichosis cubiti (hairy elbow syndrome) - AD 2. Hypertrichosis of the auricle - AD, YL 3. Hypertrichosis of the eyebrows - ? 4.[quizlet.com] Acquired hypertrichosis lanuginosa Patients with hypertrichosis lanuginosa acquisita grow lanugo-type (ie, fetal) Hair near their eyebrows and on their forehead, ears, and[codelay.com] eyebrows, forehead, ears and nose.[checkorphan.org]

    Missing: Spinocerebellar Tract Disease in Lower Limbs
  • Familial Angiolipomatosis

    […] of the medial part of the eyebrows, white forelock, heterochromia iridis; and deaf-mutism. 40 , 41 There are now four recognised variants of Waardenburg syndrome (types I–IV[nature.com] , which had six main features: lateral displacement of the medial canthi combined with dystopia of the lacrimal punctum and blepharophimosis; prominent broad nasal root; hypertrichosis[nature.com]

    Missing: Spinocerebellar Tract Disease in Lower Limbs

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