Ring chromosome 2

Definition

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).

Also known as Ring chromosome type 2, rose cluster 2 — per MONDO

Also identified as

• NCIT C121981 per MONDO
• Orphanet 96171 per MONDO
• SCTID 765485000 per MONDO
• UMLS C4707448 per MONDO

Affected Organs