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Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
Disease definition
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.
ORPHA:544488
Classification level: Disorder- Synonym(s):
- Bachmann-Bupp syndrome
- Ornithine decarboxylase deficiency
- Prevalence: <1 / 1 000 000
- Inheritance: -
- Age of onset: Antenatal, Neonatal
- ICD-10: E72.4
- OMIM: 619075
- UMLS: C5436741
- MeSH: -
- GARD: -
- MedDRA: -
A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020)
Detailed information
Disease review articles
- Clinical genetics review
- English (2022) - GeneReviews


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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