X small rings

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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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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X small rings?

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