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Richieri Costa-Pereira syndrome

Disease definition

Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.

ORPHA:3102

Classification level: Disorder
  • Synonym(s):
    • Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome
    • Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • ICD-11: LD2F.1Y
  • OMIM: 268305
  • UMLS: C1849348
  • MeSH: C535677
  • GARD: 4718
  • MedDRA: -

  A summary on this disease is available in Deutsch (2007) Español (2007) Français (2007) Italiano (2007) Nederlands (2007)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.