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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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
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
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
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.