Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
A rare genetic disease characterized by a highly variable phenotype comprising ocular anomalies (congenital glaucoma myopia retinal detachment and/or Axenfeld-Rieger anomaly) congenital hypothyroidism hearing loss microcephaly dental defects kidney anomalies cerebrovascular anomalies and distal limb anomalies. Dysmorphic facial features may include square face with prominent jaw broad flat nasal bridge short philtrum and prominent ears.
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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Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome?
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