disease arises from structure disease arises from alteration in structure chromosome 2 (Human) ring chromosome 2 https://rarediseases.info.nih.gov/diseases/10837/ring-chromosome-2 https://www.malacards.org/card/ring_chromosome_2 NCIT:C121981 UMLS:C4707448 rose cluster 2 MONDO:0019903 R2 Ring chromosome 2 syndrome Orphanet:96171 Ring chromosome type 2 chromosome 2 ring Ring 2 Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (incl. microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism). MEDGEN:1642621 GARD:0010837 SCTID:765485000 chromosome 2 disorder ring chromosome disorder