CEBALID Syndrome

Alternative Names

  • CEBALID
  • Craniofacial Defects, Dysmorphic Ears, Structural Brain Abnormalities, Expressive Language Delay, and Impaired Intellectual Development
  • MN1 C-Terminal Truncation Syndrome
  • MCTT
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

618774

Mode of Inheritance

Autosomal dominant

Gene Map Locus

22q12.1

Description

CEBALID syndrome is a complex developmental disorder characterized by global developmental delay, variably impaired intellectual development, and craniofacial and structural brain abnormalities. Common features include abnormal skull shape, characteristic facial features with midface hypoplasia, hypertelorism, and high-arched palate, and dysmorphic ears often associated with conductive or sensorineural deafness. Affected individuals have delayed walking and significant expressive speech and language delay, but many can attend special schools. Brain imaging shows crowding of the posterior fossa, including rhombencephalosynapsis (partial or complete loss of the cerebellar vermis with fusion of the cerebellar hemispheres), as well as perisylvian polymicrogyria and cerebellar hypoplasia/dysplasia. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
618774.1United Arab EmiratesMaleNoNo Attention deficit hyperactivity disorder... NM_002430.3:c.1579C>THeterozygousSaleh et al. 2021 de novo mutation
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