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43 Possible Causes for Hepatomegaly, Hypertrichosis of Eyebrows, Short Stature in Children

  • Fucosidosis

    He had a coarse face, hepatomegaly and generalized spasticity.[ncbi.nlm.nih.gov] Clinical signs include facial dysmorphism, dysostosis multiplex, moderate hepatomegaly, severe intellectual deficit, deafness, and according to age, angiokeratomas.[uniprot.org] Clinical features include angiokeratoma, progressive psychomotor retardation, neurologic signs, coarse facial features, hepatomegaly, and dysostosis multiplex.[omicsonline.org]

  • Alpha-Mannosidosis

    The disorder has been described as two distinct phenotypes: a severe form with hepatomegaly and early death following severe infections (type 1) and a mild form with hearing[genome.jp] The cells that make up your liver just become engorged with sugar they cannot process and therefore become swollen with it, leading to hepatomegaly.[study.com] Hepatomegaly is commonly diagnosed. Unfortunately, severely affected children usually succumb to infections during their first years of life.[symptoma.com]

  • SHORT Syndrome

    There were no side effects, except for gynecomastia and hepatomegaly in one case.[jmgims.co.in] 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]

  • Wiedemann-Steiner Syndrome

    […] eyelashes Dysostosis multiplex Hyperreflexia Smooth philtrum Hirsutism Recurrent respiratory infections Pectus excavatum Thick vermilion border Atrial septal defect Splenomegaly Hepatomegaly[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

    Third semester scans revealed the presence of several malformations including Dandy-Walker, hepatomegaly, hydronephrosis and micropenis.[docksci.com] 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]

  • Gingival Fibromatosis-Progressive Deafness Syndrome

    Abnormal enlargement of the liver (hepatomegaly), is often observed in association with a protruding abdomen in infants with I-cell disease.[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] […] fibromatosis,dolynslantedpalpebraarched palatemerman-Laband syndrome3,13,14:ingival fibromatosis with abnormalngers, fingernails, nose, and ears andplenomegalyGingival fibromatosis,hepatomegaly[docslide.com.br]

  • Congenital Macroglossia

    […] rare congenital condition, characterized by presenting macroglossia, defects of the abdominal wall, hemihypertrophy, omphalocele, neonatal hypoglycemia, umbilical hernia, hepatomegaly[ncbi.nlm.nih.gov] […] may present with short stature and delayed onset of puberty.[asean-endocrinejournal.org] Growth delay Absent speech Hypertrichosis Wide nasal bridge Restrictive ventilatory defect Cataract Vertebral fusion Difficulty climbing stairs Calf muscle hypertrophy Difficulty[mendelian.co]

  • BOD Syndrome

    Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.[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]

  • Autosomal Dominant Mental Retardation Type 21

    Stunted growth, hepatomegaly, hypoglycemia.[kumc.edu] Affected children have a short stature with an average height below the 5th percentile. Bone age is delayed in the first decade of life.[content.sciendo.com] […] that grow together (synophrys); long, curly eyelashes; and/or excessive hair growth on various areas of the body (hypertrichosis).[rarediseases.org]

  • Char Syndrome

    […] otherwise well when they present with the characteristic cutaneous findings, although some patients may show signs of associated viral infection, including fever, pharyngitis, hepatomegaly[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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