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Pyramidal molars-abnormal upper lip syndrome

Disease definition

Ackerman syndrome is characterized by pyramidal molar roots and taurodontism, associated with variable anomalies. It has been described in two generations of one family. Both parents and their six sibs had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers.

ORPHA:2561

  • Synonym(s):
    • Ackerman fused molar roots syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: K00.2
  • OMIM: 200970
  • UMLS: C1860167
  • MeSH: C538170
  • GARD: 469
  • MedDRA: -

Additional information

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