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1,339 Possible Causes for Anterior Hair Whorl, Hypertrichosis of Eyebrows, 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]

  • Wiedemann-Steiner Syndrome

    Dysmorphic features Wight microphthalmia, micrognathia, wide nasal bridge, thick hair, low anterior hairline, two posterior hair whorls, long and prominent eyelashes, sacral[bmcmedgenet.biomedcentral.com] 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]

  • 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: Anterior Hair Whorl
  • 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: Anterior Hair Whorl Hypertrichosis of Eyebrows
  • 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: Anterior Hair Whorl
  • Bloom Syndrome

    He was a white male with an eunuchoid appearance, central obesity, a full head of graying hair, low anterior/posterior hairlines, and a clockwise hair whorl at the vertex.[journals.plos.org] It is marked by growth retardation, microcephaly, short stature, characteristic facial features, skin eruptions, and mild to severe mental retardation [ 1 ].[ncbi.nlm.nih.gov] Children with the disorder also display similar behavioral characteristics.[ncbi.nlm.nih.gov]

    Missing: Hypertrichosis of Eyebrows
  • 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: Anterior Hair Whorl
  • Eng-Strom Syndrome

    Dysmorphic features Wight microphthalmia, micrognathia, wide nasal bridge, thick hair, low anterior hairline, two posterior hair whorls, long and prominent eyelashes, sacral[bmcmedgenet.biomedcentral.com] stature, a variety of dysmorphic facial and skeletal features, characteristic hypertrichosis cubiti (excessive hair on the elbows), mild-to-moderate developmental delay and[bmcmedgenet.biomedcentral.com] Integumentary Hypertrichosis 5 / - Hypertrichosis cubiti 5 / - Long/thick eyelashes 5 Thick eyebrows 5 e Thick hair n.a.[bmcmedgenet.biomedcentral.com]

  • 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: Anterior Hair Whorl Hypertrichosis of Eyebrows
  • Genee-Wiedemann Syndrome

    Dysmorphic features Wight microphthalmia, micrognathia, wide nasal bridge, thick hair, low anterior hairline, two posterior hair whorls, long and prominent eyelashes, sacral[bmcmedgenet.biomedcentral.com] stature, a variety of dysmorphic facial and skeletal features, characteristic hypertrichosis cubiti (excessive hair on the elbows), mild-to-moderate developmental delay and[bmcmedgenet.biomedcentral.com] Integumentary Hypertrichosis 5 / - Hypertrichosis cubiti 5 / - Long/thick eyelashes 5 Thick eyebrows 5 e Thick hair n.a.[bmcmedgenet.biomedcentral.com]