Epilepsy-microcephaly-skeletal dysplasia syndrome
Synonyms: Battaglia-Neri syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay intellectual disability hypotonia seizures microcephaly delayed bone maturation and skeletal abnormalities (such as scoliosis or pectus excavatum among others). Dysmorphic features include coarse face hirsutism thick eyebrows broad nasal septum short philtrum large mouth and prominent ears. There have been no further descriptions in the literature since 1996.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Epilepsy-microcephaly-skeletal dysplasia syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
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 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.
For a list of clinical trials in this disease area, please click here.