Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
Synonyms: Bachmann-Bupp syndrome | Ornithine decarboxylase deficiency
A rare disorder of ornithine metabolism characterized by global developmental delay alopecia macrocephaly and dysmorphic facial features (including high and broad forehead hypertelorism ptosis blepharophimosis downslanting palpebral fissures deep-set eyes large ears and retrognathia or high arched palate). Additional reported manifestations are sensorineural hearing loss spasticity hypotonia hypoplastic nails cryptorchidism and clinodactyly among others. Brain imaging may show white matter abnormalities periventricular cysts enlarged lateral ventricles or prominent perivascular spaces.
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 April 2024
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Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies 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.
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
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.