Chondrodysplasia punctata, tibial-metacarpal type
A rare non-rhizomelic chondrodysplasia punctata syndrome characterized radiologically by stippled calcifications and disproportionate short metacarpals and tibiae (with characteristic overshoot of the proximal fibula) clinically manifesting with severe short stature bilateral shortening of upper and lower limbs flat midface and nose in the absence of cataracts and cutaneous anomalies. Neonatal tachypnea hydrocephalus and mild developmental delay have been seldomly associated. Additional radiologic features include bowed long bones platyspondyly and/or vertebral clefts.
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 April 2024
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Chondrodysplasia punctata, tibial-metacarpal type?
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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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