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Holoprosencephaly.

Christèle Dubourg1, Claude Bendavid, Laurent Pasquier

  • 1UMR 6061 CNRS, Institut de Génétique et Développement de Rennes, Université de Rennes1, IFR 140 GFAS, Faculté de Médecine, Rennes, 35000, France. christele.dubourg@chu-rennes.fr

Orphanet Journal of Rare Diseases
|February 6, 2007
PubMed
Summary

Holoprosencephaly (HPE) is a severe brain and facial malformation affecting 1 in 16,000 live births. While seven genes are linked to HPE, its molecular basis remains unknown in most cases, necessitating multidisciplinary care.

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Area of Science:

  • Developmental Biology
  • Medical Genetics
  • Pediatric Neurology

Background:

  • Holoprosencephaly (HPE) is a congenital disorder caused by incomplete forebrain cleavage during early gestation.
  • It affects both brain development and facial structure, with varying severity from lobar to alobar HPE and milder forms like middle interhemispheric variant (MIHF).
  • HPE presents with significant medical challenges, including developmental delays, feeding issues, epilepsy, and frequent endocrine disorders.

Purpose of the Study:

  • To summarize the current understanding of Holoprosencephaly (HPE), including its etiology, clinical spectrum, and diagnostic approaches.
  • To highlight the known genetic factors and the limitations in molecular diagnosis for HPE.
  • To emphasize the importance of multidisciplinary management and the factors influencing patient outcomes.

Main Methods:

  • Review of existing literature on Holoprosencephaly.
  • Analysis of reported genetic associations and diagnostic techniques.
  • Discussion of clinical management strategies and prognostic indicators.

Main Results:

  • Seven genes (SHH, ZIC2, SIX3, TGIF, PTCH, GLI2, TDGF1) are implicated in HPE, with molecular diagnosis feasible for four main genes.
  • Despite genetic advances, the molecular basis for approximately 70% of HPE cases remains unidentified, supporting a 'multiple-hit hypothesis' involving genetic and environmental factors.
  • Prenatal diagnosis primarily relies on imaging (ultrasound, MRI), with molecular diagnostics playing a secondary role.

Conclusions:

  • HPE is a complex malformation with significant clinical variability, influenced by genetic and potentially environmental factors.
  • Effective management requires a multidisciplinary approach, focusing on symptomatic and supportive care.
  • Prognosis is strongly correlated with HPE severity and associated medical complications, ranging from poor to normal life expectancy.