Axial mesodermal dysplasia spectrum
Synonyms: Blastogenesis defect | Russell-Weaver-Bull syndrome
Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry hypertelorism) auricular abnormalities (e.g. preauricular tags microtia absence of middle ear ossicles) skeletal malformations (hemivertebrae hip dislocation sacral agenesis/dysplasia talipes equinovarus flexion deformity of lower limbs) cardiac defects (dextrocardia septal defects) renal and genitourinary anomalies (such as renal agensis/dysplasia abnormal external genitalia cryptorchidia) as well as anal anomalies such as anal atresia and rectovesical fistula.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
Newly diagnosed with
Axial mesodermal dysplasia spectrum?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
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.
For a list of clinical trials in this disease area, please click here.