Short rib-polydactyly syndrome, Majewski type
Synonyms: Short rib-polydactyly syndrome type 2
A rare ciliopathy with major skeletal involvement characterized by a hypoplastic thorax with short ribs and protuberant abdomen micromelia with particularly short tibiae with ovoid configuration pre- and postaxial polydactyly brachydactyly hypoplasia or aplasia of nails and dysmorphic craniofacial features (such as prominent forehead low-set and malformed ears short and flat nose lobulated tongue micrognathia and cleft lip/palate). Additional reported manifestations include urogenital gastrointestinal cardiovascular and cerebral malformations among others. The condition is fatal in the neonatal period.
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
Newly diagnosed with
Short rib-polydactyly syndrome, Majewski type?
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.