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Trigonocephaly-short stature-developmental delay syndrome

Disease definition

Trigonocephaly-short stature-developmental delay syndrome is characterised by short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance can not be ruled out.


  • Synonym(s):
    • Say-Meyer syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: No data available
  • ICD-10: Q87.0
  • OMIM: 314320
  • UMLS: C1839125
  • MeSH: -
  • GARD: 243
  • MedDRA: -
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