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62 Possible Causes for Hypertrichosis of Eyebrows, Short Stature in Children

  • 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]

  • 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]

  • 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]

  • 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]

  • 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]

  • 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]

  • 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]

  • Coffin-Lowry Syndrome

    Abstract A family is reported in which the mother and 4 of her 6 children are affected by a constellation of abnormalities including mental handicap, abnormal facies, short[ncbi.nlm.nih.gov] stature, soft fleshy hands with tapering fingers and skeletal abnormalities.[ncbi.nlm.nih.gov]

  • Gingival Fibromatosis-Progressive Deafness Syndrome

    Growth delays usually result in short stature (dwarfism).[rarediseases.org] Since variable expressionoccurs in autosomal dominant conditions and synophris,bushy eyebrows and hypertrichosis were not present inunaffected family members, the diagnosis[docslide.net] They had bushy eyebrows and synophrys, but no generalised hypertrichosis, were of normal intellect and had none of the syndromic associations of HGF as delineated above.[documentslide.com]

  • Autosomal Recessive Deafness 88

    Fanconi, in 1927 he described hereditary panmyelopathy with short stature and hyperpigmentation, better known as Fanconi anemia.[wikivisually.com] […] of eyebrows; 4. white forelock; 5. heterochromia of irides; 6.[ent.com.au] In 1929 he succeeded Emil Feer as professor of pediatrics and head of the Kinderspital, under his direction, it became one of the most renowned childrens hospitals in the[wikivisually.com]

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