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169 Possible Causes for Hypertrichosis of Eyebrows, Mental Retardation from Rapid Mental Regression

  • 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: Mental Retardation from Rapid Mental Regression
  • Coffin-Lowry Syndrome

    From Wikidata Jump to navigation Jump to search genetic disorder that is X-linked dominant Coffin-Lowry syndrome (disorder) Coffin syndrome 1 Lean spastic dwarfism Mental retardation with osteocartilaginous abnormalities Dwarfism, lean spastic type Coffin syndrome COFFIN-LOWRY SYNDROME COFFIN-LOWRY SYNDROME; CLS[…][wikidata.org]

    Missing: Mental Retardation from Rapid Mental Regression
  • Rubinstein-Taybi Syndrome

    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] The common abnormalities include hypertrichosis and hirsuitism,heavy eyebrows, prominent beaked nose,hypoplastic maxilla, lowest ears and skeletal anomalies including broad[ispub.com] , 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: Mental Retardation from Rapid Mental Regression
  • 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: Mental Retardation from Rapid Mental Regression
  • 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: Mental Retardation from Rapid Mental Regression
  • 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: Mental Retardation from Rapid Mental Regression
  • 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: Mental Retardation from Rapid Mental Regression
  • 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: Mental Retardation from Rapid Mental Regression
  • 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: Mental Retardation from Rapid Mental Regression

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