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1,327 Possible Causes for Hypertrichosis of Eyebrows, Lenticular Spoke-Like Opacities, Short Stature in Children

  • 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]

  • Fucosidosis

    Return to The Medical Biochemistry Page 1996–2019 themedicalbiochemistrypage.org, LLC info @ themedicalbiochemistrypage.org Fucosidosis belongs to a family of disorders identified as lysosomal storage diseases. Fucosidosis is an autosomal recessive disorder that results from deficiencies in the fucosidase, alpha-L-1[…][themedicalbiochemistrypage.org]

    Missing: Lenticular Spoke-Like Opacities
  • Growth Failure

    […] lead to short stature.[rileychildrens.org] Children with short stature in whom no specific cause is identified may be diagnosed with idiopathic short stature.[ncbi.nlm.nih.gov] When examined further, causes for short stature within this group of children included familial short stature (37%), constitutional delay (27%), a combination of familial[emedicine.medscape.com]

    Missing: Hypertrichosis of Eyebrows Lenticular Spoke-Like Opacities
  • Schwartz-Jampel Syndrome

    stature and skeletal dysplasia.[ncbi.nlm.nih.gov] The child had a short neck, blepharophimosis, flattened face, hypertrichosis of the eyelids, prominent eyebrows, high arched palate, low set ears, micrognathia, short stature[advbiores.net] We report six Indian children with this disorder presenting with different clinical manifestations.[ncbi.nlm.nih.gov]

    Missing: Lenticular Spoke-Like Opacities
  • SHORT Syndrome

    Short Stature in Children Symptoms Short parents tend to have short children.[emedicinehealth.com] We and others noticed that some patients had features reminiscent of CdLS, particularly where facial hypertrichosis and prominent eyebrows were present.[nature.com] […] lead to short stature.[rileychildrens.org]

    Missing: Lenticular Spoke-Like Opacities
  • Vitamin D Deficiency

    We report a rare case of a 27-year-old Asian female presenting with simultaneous brown tumours in the maxilla and mandible secondary to vitamin D deficiency which was a result of dietary deficiency and lack of exposure to sunlight.[ncbi.nlm.nih.gov]

    Missing: Hypertrichosis of Eyebrows Lenticular Spoke-Like Opacities
  • Cataract

    BMJ. 2006 Jul 15; 333(7559): 128–132. This article has been cited by other articles in PMC. Cataract surgery is the commonest single surgical procedure carried out in the developed world. In the developing world, cataract remains the commonest cause of blindness. In 1990 an estimated 37 million people were blind[…][ncbi.nlm.nih.gov]

    Missing: Hypertrichosis of Eyebrows Short Stature in Children
  • Wiedemann-Steiner Syndrome

    Investigation of pituitary function should be undertaken in children with WSS and short stature.[ncbi.nlm.nih.gov] […] 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]

    Missing: Lenticular Spoke-Like Opacities
  • Thanatophoric Dysplasia

    Dwarf, thanatophoric thanatophoric dwarfism thanatophoric short stature Cohen MM Jr. Some chondrodysplasias with short limbs: molecular perspectives.[ghr.nlm.nih.gov] […] lungs Cloverleaf skull Feeding difficulties in infancy Rare Symptoms - Less than 30% cases Smooth philtrum Hypoglycemia Talipes Hyperhidrosis Mandibular prognathia Thick eyebrow[mendelian.co] Thanatophoric dysplasia is also known by the names: Dwarf, thanatophoric Thanatophoric dwarfism Thanatophoric short stature Symptoms of Thanatophoric Dysplasia Unfortunately[disabled-world.com]

    Missing: Lenticular Spoke-Like Opacities
  • Rubinstein-Taybi Syndrome

    Children with RTS usually have a normal birth weight, but subsequent growth is poor, with most children being of short stature with a small head size.[cafamily.org.uk] 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]

    Missing: Lenticular Spoke-Like Opacities