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.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024
Newly diagnosed with
Chondrodysplasia punctata, Toriello type?
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Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
Clinical Trials
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