Intellectual disability, Buenos-Aires type
Synonyms: Mutchinick syndrome
Intellectual disability Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation microcephaly characteristic facial features (including narrow forehead bushy eyebrows hypertelorism small downward-slanting palpebral fissures with blepharoptosis malformed and low-set ears broad straight nose thin upper lip and a wide tented mouth) developmental delay intellectual disability speech disorder and multiple organ malformations (e.g. ventricular septal defect megaloureter dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis) internal hydrocephalus and bilateral partial soft-tissue syndactyly of second and third toe.
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 September 2023.
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Intellectual disability, Buenos-Aires type?
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Advocacy Organizations
DDX3X Foundation
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 Inc
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.
Clinical Trials
For a list of clinical trials in this disease area, please click here.