Trigonocephaly-short stature-developmental delay syndrome

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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 Data version May 2024

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