Orphanet: Semilobar holoprosencephaly

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Semilobar holoprosencephaly

Disease definition

A form of holoprosencephaly characterized by fusion of the left and right frontal and parietal lobes with only a posterior interhemispheric fissure. Craniofacial features variably include ocular hypotelorism, midline cleft lip (complete or partial) and a flat nose.

ORPHA:220386

Classification level: Subtype of disorder

Synonym(s): -
Prevalence: 1-9 / 100 000
Inheritance: Multigenic/multifactorial or Not applicable
Age of onset: Infancy, Neonatal
ICD-10: Q04.2
ICD-11: LA05.2
OMIM: 157170 301043 609637 610829
UMLS: C0751617
MeSH: -
GARD: -
MedDRA: -

Detailed information

Disease review articles

Clinical genetics review
English (2020) - GeneReviews

Genetic Testing

Guidance for genetic testing
English (2010) - Eur J Hum Genet
Français (2015, pdf) - ANPGM

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Semilobar holoprosencephaly

ORPHA:220386

A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020) Deutsch (2011) Italiano (2011) Português (2011) Polski (2011, pdf)

Disease review articles

Genetic Testing

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services