Description of the disease * EnglishPolish Pobierz sekcję do PDF 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. Disease data Classification Malformation syndrome Synonyms Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome Niski wzrost - sekwencja Pierre'a Robina - rozszczep żuchwy - wady rąk - stopa końsko-szpotawa Niski wzrost - zespół Pierre'a Robina - rozszczep żuchwy - wady rąk - stopa końsko-szpotawa Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome ORPHA code 3102 OMIM code 268305 ICD10 code Q87.8 ICD11 code LD2F.1Y *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl