Aymé-Gripp syndrome

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Aymé-Gripp syndrome

Synonyms: Brachycephaly-deafness-cataract-intellectual disability syndrome | Brachycephaly-hearing loss-cataract-intellectual disability syndrome | Fine-Lubinsky syndrome

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital cataract sensorineural hearing loss developmental delay with variable degrees of intellectual disability seizures short stature brachycephaly and dysmorphic facial features (such as flat facial appearance ptosis short nasal tip long philtrum low-set and posteriorly rotated ears and small mouth). Additional reported manifestations are skeletal abnormalities nail dystrophy mammary gland hypoplasia and autism spectrum disorder.

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 March 2024

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Aymé-Gripp syndrome?

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Clinical Trials

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