Rare Disease Library

Hypertelorism-hypospadias-polysyndactyly syndrome

Naguib-Richieri-Costa syndrome · Acrofrontofacionasal dysostosis type 2

3-methylglutaconic aciduria type 3

Autosomal recessive optic atrophy plus syndrome · Autosomal recessive optic atrophy type 3

Acrofrontofacionasal dysostosis

Richieri-Costa-Colletto syndrome

Autosomal recessive faciodigitogenital syndrome

Aarskog-like syndrome · Facio-digito-genital syndrome, Kuwait type

Blepharofacioskeletal syndrome

Richieri Costa-Guion Almeida-Rodini syndrome

Costello syndrome

FCS syndrome · Faciocutaneoskeletal syndrome

Microbrachycephaly-ptosis-cleft lip syndrome

Richieri Costa-Guion Almeida-Ramos syndrome

Nager syndrome

Mandibulofacial dysostosis with preaxial limb anomalies · NAFD

OBSOLETE: Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome

OBSOLETE: Rodini-Richieri Costa syndrome

Oculomaxillofacial dysostosis

Richieri-Costa-Gorlin syndrome

Richieri Costa-da Silva syndrome

Myotonia-intellectual disability-skeletal anomalies syndrome

Richieri Costa-Pereira syndrome

Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome · Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome

Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome

Richieri Costa-Guion Almeida syndrome