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.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
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.