disease arises from structure disease arises from alteration in structure chromosome X (Human) inherited primary ovarian failure X small rings https://www.malacards.org/card/x_small_rings MEDGEN:1641475 UMLS:C4707824 SCTID:766760004 Orphanet:96201 GARD:0019345 X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures. MONDO:0019926 chromosome X disorder ring chromosome disorder