Richieri Costa-Pereira syndrome

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Name:
Richieri Costa-Pereira syndrome
Description:
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.
ORPHAcode:
3102
Synonyms:
Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome
Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome
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Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14