Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

Pyle disease

Orpha number ORPHA3005
Synonym(s) Metaphyseal dysplasia, Pyle type
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • Q78.5
ICD-O -
OMIM
UMLS -
MeSH
  • C536252
MedDRA -
SNOMED CT
  • 27837003

Summary

Pyle disease is a bone dysplasia characterised by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning. To date, less than 30 cases have been reported in the literature. Cranial involvement is minimal with mild hyperostosis of the skull base, and thickening of the frontal and occipital bones reported in some cases. Transmission is autosomal recessive. Erlenmeyer flask deformity is also a prominent feature of the autosomal dominant Braun-Tinschert type of metaphyseal dysplasia (see this term). The two conditions can be distinguished by the mode of inheritance and by the presence of marked varus deformity of the distal part of the radii in Braun-Tinschert metaphyseal dysplasia.


(*) 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
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.