Orphanet: Brachyolmia amelogenesis imperfecta syndrome
x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Brachyolmia-amelogenesis imperfecta syndrome

Disease definition

An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.

ORPHA:2899

Classification level: Disorder
  • Synonym(s):
    • Platyspondyly-amelogenesis imperfecta syndrome
    • Verloes-Bourguignon syndrome
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: Q76.3
  • OMIM: 601216
  • UMLS: C1832594
  • MeSH: -
  • GARD: 5478
  • MedDRA: -
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.