Trigonocephaly-short stature-developmental delay syndrome
Synonyms: Say-Meyer syndrome
A rare developmental defect during embryogenesis characterized by premature closure of metopic sutures and/or other sutures short stature and developmental delay. Dysmorphic features include trigonocephaly metopic ridge narrow forehead bitemporal narrowing arched eyebrows hypotelorism deep-set eyes epicanthal folds strabismus wide nasal bridge small pointed nose anteverted nostrils long philtrum low-set ears malar flattening narrow mouth thin lips high-arched palate crowded teeth and micrognathia. Variable additional manifestations may include conductive hearing loss cerebral (mainly involving the white matter) skeletal (e.g. brachymesophalangy of the fifth fingers) cardiovascular and renal anomalies inguinal hernia hypospadias and seizures.
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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Trigonocephaly-short stature-developmental delay 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.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
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
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