Alagille syndrome

A rare syndrome variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.

Spina bifida

Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.


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(per page)
PMID (PMCID)
28018696
(5149642)
OTHER
Alagille Syndrome: A Case Report Highlighting Dysmorphic Facies, Chronic Illness, and Depression.
Bresnahan JJ, Winthrop ZA, Salman R, Majeed S.
Case Rep Psychiatry. 2016;2016:1657691.
Alagille syndrome shares multiple phenotypic variants of other congenital or chronic childhood illnesses such as DiGeorge syndrome, Down syndrome, spina bifida, type 1 diabetes mellitus, and cystic fibrosis.