# Lisencefalia com hipoplasia do cerebelo

> Página oficial: https://raras.org/doenca/lisencefalia-com-hipoplasia-do-cerebelo
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 86823 — https://www.orpha.net/en/disease/detail/86823

## Descrição clínica

Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (>-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F.

## Epidemiologia e herança

- **Prevalência**: Unknown

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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**Citação sugerida**: Raras.org — Lisencefalia com hipoplasia do cerebelo. Disponível em: https://raras.org/doenca/lisencefalia-com-hipoplasia-do-cerebelo
**Formato HTML**: https://raras.org/doenca/lisencefalia-com-hipoplasia-do-cerebelo
**Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=86823