Microcephalic primordial dwarfism, Dauber type
Microcephalic primordial dwarfism Dauber type is a rare genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation severe microcephaly severe developmental delay and intelletual disability severe adult short stature and facial dysmorphism (incl. hypotelorism small ears prominent nose). Other reported features include skeletal anomalies (Madelung deformity clinodactyly mild lumbar scoliosis bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.
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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Microcephalic primordial dwarfism, Dauber type?
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