Severe Microbrachycephaly-intellectual Disability-athetoid Cerebral Palsy Syndrome

Description

Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome is an extremely rare, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism, including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia, and cleft palate, associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992.

Clinical Features

Top most frequent phenotypes and symptoms related to Severe Microbrachycephaly-intellectual Disability-athetoid Cerebral Palsy Syndrome

  • Seizures
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Strabismus
  • Spasticity
  • Cognitive impairment
  • Frontal bossing
  • Hypertonia
  • Microphthalmia

And another 24 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Sources and references

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