Short rib-polydactyly syndrome, Saldino-Noonan type
Synonyms: Short rib-polydactyly syndrome type 1
A rare ciliopathy with major skeletal involvement characterized by short ribs with an extremely narrow thorax very short limbs absent or very small fibulae severe metaphyseal dysplasia of tubular bones post-axial polydactyly and defective ossification in the calvaria vertebrae pelvis and bones of the hands and feet. Congenital anomalies of multiple other organs have also been described such as polycystic kidneys transposition of the great vessels and atretic lesions of the gastrointestinal and genitourinary tract. Hydrops fetalis may be observed at an early gestational age.
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, Saldino-Noonan 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
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
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.