Dysostosis cleidocranialis

Dysostosis (dysplasia) cleidocranialis is an AD hereditarydisorder of desmogenous (gum, calf, pelvis) and enchondral (arm, leg, spine) ossification. For example, actor Gaten Matarazzo (who played Dustin Henderson in Stranger Things) suffers from the disease.

Pathogenesis

 * Mutation of the RUNX2 gene (runt related transcription factor 2, gene naming recommended by HGNC; former gene name CBFA1) → abnormal bone tissue produced.

Clinical picture
It usually manifests itself in the first 2 years, typical symptoms are:


 * broad head, relatively small face with hypertelorism, vertical shoulders, narrow chest, dentition disorder, persistent fontanelles,
 * aplasia / hypoplasia of the clavicle,
 * short stature
 * hypermobility of the arm girdle,
 * neuromuscular disorders from brachial plexus damage and agenesis of some chest muscles,
 * scoliosis, hollow chest,
 * brachycephaly,
 * poorly developed dentition (delayed eruption and replacement of teeth).

X-ray image

 * Defective clavicles(in the lateral and central part),
 * delayed closrie of fontanelles and cranial sutures (as opposed to craniostenosis),
 * possibly deformities of the chest, pelvis, scoliosis, spina bifida occulta.

Therapy

 * Reconstruction of the clavicles is not recommended, sometimes decompression of the brachial plexus,
 * coxa vara: valgus intertrochanteric osteotomy,
 * strengthening of the muscles of the shoulder girdle: exercise, bandage,
 * treatment of scoliosis.

Related articles

 * Achondroplasia
 * Thanatophoric dwarfism
 * Diastrophic dysplasia (diastrophic dwarfism)
 * Spondyloepiphyseal dysplasia
 * Apert syndrome (acrocephalosyndactyly)
 * Osteogenesis imperfecta (osteopsathyrhosis,ossium fragility)
 * Arthrogryposis multiplex congenita

Reference

 * 1) MENDOZA-LONDONO, Roberto and Brendan LEE. Cleidocranial Dysplasia  [online]. [feeling. 2017-05-29]. < https://www.ncbi.nlm.nih.gov/books/NBK1513/ >.
 * 2) WANG, Jiangping, Xinwen HUANG, and Can LAI, et al. Clinical spectrum of cleidocranial dysplasia in a family with twins. Pediatr Int [online] . 2013, vol. 55, no. 3, pp. 392-5, also available from < https://www.ncbi.nlm.nih.gov/pubmed/23782374 >. ISSN 1442-200X.