Richieri Costa-Pereira syndrome
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.
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
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MONDO:0018230
skeletal dysplasia
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Richieri Costa Pereira syndrome
related
Richieri Costa-Pereira syndrome
exact
Richieri-Costa and Pereira form of acrofacial dysostosis
related
short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot
related
short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome
exact
short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome
exact
SPAC1F5.10