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34 Possible Causes for Hypertrichosis of Eyebrows, Short Stature in Children, Splenomegaly

  • Fucosidosis

    […] the symptoms are usually classified as: Type I (also called severe) begins in the first 3-18 months of life coarse facial features enlarged liver (hepatomegaly), spleen (splenomegaly[dermaamin.com] […] spasticity manifests coarse facies dwarfism and other muscoskeletal anomalies recurrent respiratory infections angiokeratomas organomegaly : glossomegaly, hepatomegaly, splenomegaly[radiopaedia.org] […] respiratory infections [ more ] 0002205 Scoliosis Abnormal curving of the spine 0002650 Shield chest 0000914 Short stature Decreased body height Small stature [ more ] 0004322 Splenomegaly[rarediseases.info.nih.gov]

  • Alpha-Mannosidosis

    The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe[diseaseinfosearch.org] […] onset of the most severe form, type III, begins within the first months of life and includes a quick progression of intellectual disability, liver and spleen enlargement ( splenomegaly[ipfs.io] Splenomegaly is minimal. Respiratory infections and otitis media are frequent.[emedicine.medscape.com]

  • Gingival Fibromatosis-Progressive Deafness Syndrome

    Report of an affected family with associated splenomegaly and skeletal and soft-tissue abnormalities. Oral Surg 1964: 17: 339-351.[documentslide.com] 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]

  • Wiedemann-Steiner Syndrome

    Long eyelashes Dysostosis multiplex Hyperreflexia Smooth philtrum Hirsutism Recurrent respiratory infections Pectus excavatum Thick vermilion border Atrial septal defect Splenomegaly[mendelian.co] 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]

  • Rubinstein-Taybi Syndrome

    Splenomegaly was observed at 21 years of age, and a detailed immunological analysis of this patient was performed by Torres (2008) 13.[scielo.br] 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]

  • Autosomal Recessive Deafness 88

    Effects of extensive splenomegaly in patients with myelofibrosis undergoing a reduced intensity allogeneic stem cell transplantation. Br J Haematol. 2008;141:80–3. 5.[44q.posterior.us] 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]

  • Proteus Syndrome

    Lipomas, splenomegaly, cystic lung changes, and pulmonary embolism.[doi.org] In children, growth rates may be slow, ultimately resulting in short stature. Affected individuals may be prone to fractures.[rarediseases.org] Five patients exhibited relative hypertrichosis of 1 extremity or as a localized patch.[jamanetwork.com]

  • Familial Isolated Trichomegaly

    […] characteristic darkening of the skin in patients with the disease Symptoms include bouts of fever, weakness, diarrhoea, emaciation, swollen glands Laboratory tests may show splenomegaly[infinitypath.com.au] […] eyelashes in a case series of 93 children with vernal keratoconjunctivitis. ( 15629970 ) Pucci N....Vierucci A. 2005 42 A case of familial trichomegaly in association with[malacards.org] […] of eyebrows.[genecards.org]

  • BOD Syndrome

    […] eyelashes Sparse hair Hepatomegaly Failure to thrive Hypogonadism Developmental regression Hypoglycemia Spasticity Tics Cerebral atrophy Wide nose Muscle weakness Hernia Splenomegaly[mendelian.co] […] clinical features ...linical-features] {3:Senior (1971)} described 6 'short children with tiny fingernails.'[bio2rdf.org] […] and eyelash hypertrichosis, diffuse hirsutism and, most typically, hypoplastic to absent fifth finger nails and phalanges (Fig. 39.2), although other fingers and/or toes[cambridge.org]

  • Char Syndrome

    […] they present with the characteristic cutaneous findings, although some patients may show signs of associated viral infection, including fever, pharyngitis, hepatomegaly, splenomegaly[cancertherapyadvisor.com] Short stature Children with Noonan syndrome are usually a normal length at birth.[nhs.uk] At birth, the hair on the face may be abnormally thick (hypertrichosis) but thins out over time.[ghr.nlm.nih.gov]

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