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

Simple search

(*) mandatory field


Other search option(s)

Spondylocamptodactyly syndrome

Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance -
Age of onset -
  • Q77.8
  • C1838781
  • C535779
MedDRA -


Disease definition

Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis.


This syndrome has been described in five members from three generations of one family.

Genetic counseling

Inhertitance is thought to be autosomal dominant or autosomal recessive with pseudodominance.

(*) 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.