Arachnodactyly-abnormal ossification-intellectual disability syndrome

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Arachnodactyly-abnormal ossification-intellectual disability syndrome

Synonyms: Kosztolanyi syndrome

A multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification frontal bossing flat calvaria shallow deformed orbits resulting in exophtalmos midface hypoplasia and micrognathia) feeding difficulties in infancy infantile muscular hypotonia and developmental delay leading to intellectual disability.

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 February 2024

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