Axial mesodermal dysplasia spectrum

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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.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version December 2023

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Axial mesodermal dysplasia spectrum?

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