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Keipert syndrome

Disease definition

A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis.

ORPHA:2662

Classification level: Disorder
  • Synonym(s):
    • Nasodigitoacoustic syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: -
  • ICD-10: Q87.0
  • OMIM: 301026
  • UMLS: C1850627
  • MeSH: -
  • GARD: 267
  • MedDRA: -

  A summary on this disease is available in Deutsch (2017) Español (2017) Français (2017) Italiano (2017) Nederlands (2017)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.