Larsen-like osseous dysplasia-short stature syndrome
Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple congenital large joint dislocations craniofacial abnormalities (i.e. macrocephaly flat occiput prominent forehead hypertelorism low-set malformed ears flat nose cleft palate) spinal abnormalities cylindrical fingers and talipes equinovarus as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay hypotonia clinodactyly congenital heart defect and renal dysplasia.
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 March 2024
Newly diagnosed with
Larsen-like osseous dysplasia-short stature syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
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.
The Chandler Project
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
For a list of clinical trials in this disease area, please click here.