Affiliated tissues include liver and breast, and related phenotypes are failure to thrive and rickets UniProtKB/Swiss-Prot : 73 Familial hypercholanemia: A disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption [malacards.org]

Fat malabsorption, reflecting low intestinal bile acid levels, was manifested by failure to thrive, potentially life-threatening vitamin-K dependent coagulopathy and rickets. Symptoms usually responded to treatment with ursodeoxycholic acid (UDCA). [go.gale.com]

Diseases related with Failure to thrive and Pruritus In the following list you will find some of the most common rare diseases related to Failure to thrive and Pruritus that can help you solving undiagnosed cases. [mendelian.co]

Fat malabsorption, reflectinglow intestinal bile acid levels, was manifested by failure to thrive,potentially life-threatening vitamin-K dependent coagulopathyand rickets. Symptoms usually responded to treatment withursodeoxycholic acid (UDCA). [docslide.com.br]

[…] colli - Fingerlike / triphalangeal thumb - Herniae - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation - Large fontanelle / delayed fontanelle closure - Low hair line (back) - Macrostomia [csbg.cnb.csic.es]

colli - Fingerlike / triphalangeal thumb - Herniae - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation - Large fontanelle / delayed fontanelle closure - Low hair line (back [csbg.cnb.csic.es]

set ears / posteriorly rotated ears - Short / small nose Frequent - Abnormally placed nipples - Absent / small fingernails / anonychia of hands - Anomalies of spine, vertebrae and pelvis - Bifid scrotum - Coarse / thick hair - Epicanthic folds - Excess [csbg.cnb.csic.es]

hand / brachydactyly - Short stature / dwarfism / nanism - Strabismus / squint Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Neoplasms / tumors - Structural anomalies of the cardio-circulatory system - Undescended [csbg.cnb.csic.es]

fontanelle / delayed fontanelle closure - Low hair line (back) - Macrostomia / big mouth - Microcephaly - Protruding lips - Ptosis - Short hand / brachydactyly - Short stature / dwarfism / nanism - Strabismus / squint Occasional - Cleft palate without [csbg.cnb.csic.es]

lips - Ptosis - Short hand / brachydactyly - Short stature / dwarfism / nanism - Strabismus / squint Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Neoplasms / tumors - Structural anomalies of the cardio-circulatory [csbg.cnb.csic.es]

lip / submucosal cleft palate / bifid uvula - Neoplasms / tumors - Structural anomalies of the cardio-circulatory system - Undescended / ectopic testes / cryptorchidia / unfixed testes Familial hypercholanemia (no data available) [csbg.cnb.csic.es]

No other single source delivers the practical, hands-on information you need to solve even the toughest diagnostic challenges in liver biopsies. [books.google.com]

Liver biopsy findings varied. One untreated individual (1d) had canalicular cholestasis and two individuals (7c, 12c) receiving UDCA had minimally active chronic hepatitis [1]. [go.gale.com]

Liver biopsy showed piecemeal necrosis with early cirrhosis and no bile stasis or bile duct proliferation. She was started on cholestyramine, diphenhydaramine, ursodeoxycholic acid to which she had mild relief. [pediatriconcall.com]