Orphanet: Hypomandibular faciocranial dysostosis
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Hypomandibular faciocranial dysostosis

Disease definition

Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis.

ORPHA:1790

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q75.4
  • OMIM: 241310
  • UMLS: C1855848
  • MeSH: C537154
  • GARD: 2907
  • MedDRA: -

  A summary on this disease is available in Deutsch (2005) Español (2014) Français (2014) Italiano (2014) Nederlands (2014)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

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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.