Poorly described phenotypes add to the misfortune of rare diseases

An often overlooked problem in the characterization of rare diseases is the contingent and evolving nature of accepted phenotypes. In the era of next-generation sequencing and genotype-first approaches to patient care, we illustrate the pitfalls of superficial phenotype descriptions via a historic o...

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Bibliographic Details
Published in:European journal of medical genetics Vol. 77; p. 105034
Main Authors: A, Fabre, K, Aouchiche, R, Reynaud
Format: Journal Article
Language:English
Published: Netherlands Elsevier Masson SAS 01.10.2025
Elsevier
Subjects:
Alagille syndrome
Alagille Syndrome - diagnosis
Alagille Syndrome - genetics
Alagille Syndrome - pathology
Case report
Genetics
Genotype-first approach
Humans
Life Sciences
Phenotype
Rare disease
Rare Diseases - diagnosis
Rare Diseases - genetics
Rare Diseases - pathology
Phenotype
Case report
Genotype-first approach
Alagille syndrome
Rare disease
ISSN:1769-7212, 1878-0849, 1878-0849
Online Access:Get full text
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Summary:An often overlooked problem in the characterization of rare diseases is the contingent and evolving nature of accepted phenotypes. In the era of next-generation sequencing and genotype-first approaches to patient care, we illustrate the pitfalls of superficial phenotype descriptions via a historic overview of Alagille syndrome. These reflections lead us to a series of recommendations to improve phenotype descriptions, namely to encourage and standardize case reports and create case databases including follow-up data.
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content type line 23
ISSN:1769-7212
1878-0849
1878-0849
DOI:10.1016/j.ejmg.2025.105034