syndromic disease Ruvalcaba syndrome https://rarediseases.info.nih.gov/diseases/4748/ruvalcaba-syndrome https://www.malacards.org/card/ruvalcaba_syndrome ICD9:759.89 MESH:C579395 Orphanet:3121 SCTID:3073006 OMIM:180870 MONDO:0008395 GARD:0004748 An extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay. UMLS:C0265248 Ruvalcaba syndrome MEDGEN:120520 multiple congenital anomalies/dysmorphic syndrome-intellectual disability X-linked syndromic intellectual disability