X small rings
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
X small rings?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Rare Chromosome Disorder Support Group – Unique
To inform, support and alleviate the isolation of anyone affected by a rare chromosome or single gene disorder and to raise public awareness.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.