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 September 2023.
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Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome?
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Advocacy Organizations
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.
Mississippi Metabolics Foundation
Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
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.
Clinical Trials
For a list of clinical trials in this disease area, please click here.