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.
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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Mississippi Metabolics Foundation
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