syndromic intellectual disability congenital nervous system disorder multiple congenital anomalies/dysmorphic syndrome-intellectual disability syndromic developmental defect of the eye malformation syndrome with short stature syndromic urogenital tract malformation polymalformative genetic syndrome with increased risk of developing cancer syndromic genetic obesity inherited nervous system cancer-predisposing syndrome syndrome with brachydactyly Rubinstein-Taybi syndrome Broad thumb-hallux syndrome Broad thumbs-halluces syndrome DOID:1933 GARD:0007593 ICD10:Q87.2 ICD9:759.89 MESH:D012415 MONDO:0019188 MedDRA:10039281 NCIT:C75466 OMIMPS:180849 Orphanet:783 RSTS Rubinstein syndrome Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics. SCTID:45582004 UMLS:C0035934 proximal chromosome 16p13.3 deletion syndrome syndromic renal or urinary tract malformation rare disease with glaucoma as a major feature lens shape anomaly unclassified primitive or secondary maculopathy genetic multiple congenital anomalies/dysmorphic syndrome intellectual disability, autosomal dominant