Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
Synonyms: CHOPS syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay intellectual disability short stature skeletal abnormalities (such as brachydactyly and vertebral anomalies) obesity cardiac respiratory and genitourinary anomalies and dysmorphic facial features (including coarse facies thick eyebrows synophrys hypertelorism short upturned nose and long philtrum). Additional reported manifestations are microcephaly hearing impairment cataract and gastroesophageal reflux.
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 October 2023.
Newly diagnosed with
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
CHOPS Syndrome Global
Provide support, resources and hope for a cure for families affected by CHOS Syndrome
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
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.