Intellectual disability, Buenos-Aires type

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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: // Data version September 2023.

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