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Microbrachycephaly-ptosis-cleft lip syndrome

Disease definition

Microbrachycephaly-ptosis-cleft lip syndrome is characterised by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive.

ORPHA:2511

Classification level: Disorder
  • Synonym(s):
    • Richieri Costa-Guion Almeida-Ramos syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 268850
  • UMLS: -
  • MeSH: -
  • GARD: 3596
  • MedDRA: -
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