Chondrodysplasia punctata, Toriello type
Synonyms: Toriello-Higgins-Miller syndrome
Chondrodysplasia punctata Toriello type is a rare non-rhizomelic primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities short stature and ocular colobomata. In addition patients present chondrodysplasia punctata brachycephaly flat facial profile with small nose flat lower eyelids and low-set ears developmental delay brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum small vermis enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Chondrodysplasia punctata, Toriello type?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
The Chandler Project
The Chandler Project (TCP) provides those affected with achondroplasia, and other forms of skeletal dysplasia (dwarfism), with the latest in pharmaceutical research and surgical advancements.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.