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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.[] Clinical signs include facial dysmorphism, dysostosis multiplex, moderate hepatomegaly, severe intellectual deficit, deafness, and according to age, angiokeratomas.[] Clinical features include angiokeratoma, progressive psychomotor retardation, neurologic signs, coarse facial features, hepatomegaly, and dysostosis multiplex.[]

  • 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[] The cells that make up your liver just become engorged with sugar they cannot process and therefore become swollen with it, leading to hepatomegaly.[] Hepatomegaly is commonly diagnosed. Unfortunately, severely affected children usually succumb to infections during their first years of life.[]

  • SHORT Syndrome

    There were no side effects, except for gynecomastia and hepatomegaly in one case.[] Short Stature in Children Symptoms Short parents tend to have short children.[] We and others noticed that some patients had features reminiscent of CdLS, particularly where facial hypertrichosis and prominent eyebrows were present.[]

  • Wiedemann-Steiner Syndrome

    […] eyelashes Dysostosis multiplex Hyperreflexia Smooth philtrum Hirsutism Recurrent respiratory infections Pectus excavatum Thick vermilion border Atrial septal defect Splenomegaly Hepatomegaly[] Investigation of pituitary function should be undertaken in children with WSS and short stature.[] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[]

  • Rubinstein-Taybi Syndrome

    Third semester scans revealed the presence of several malformations including Dandy-Walker, hepatomegaly, hydronephrosis and micropenis.[] 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.[] The common abnormalities include hypertrichosis and hirsuitism,heavy eyebrows, prominent beaked nose,hypoplastic maxilla, lowest ears and skeletal anomalies including broad[]

  • 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.[] Since variable expressionoccurs in autosomal dominant conditions and synophris,bushy eyebrows and hypertrichosis were not present inunaffected family members, the diagnosis[] […] fibromatosis,dolynslantedpalpebraarched palatemerman-Laband syndrome3,13,14:ingival fibromatosis with abnormalngers, fingernails, nose, and ears andplenomegalyGingival fibromatosis,hepatomegaly[]

  • Congenital Macroglossia

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

  • BOD Syndrome

    Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.[] […] clinical features ...linical-features] {3:Senior (1971)} described 6 'short children with tiny fingernails.'[] […] 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[]

  • Autosomal Dominant Mental Retardation Type 21

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

  • 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[] Short stature Children with Noonan syndrome are usually a normal length at birth.[] At birth, the hair on the face may be abnormally thick (hypertrichosis) but thins out over time.[]

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