Chondrodysplasia-difference of sex development syndrome

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Synonyms: Chondrodysplasia-disorder of sex development syndrome | Nivelon-Nivelon-Mabille syndrome

A rare disorder of sex development affecting 46,XY individuals and characterized by complete gonadal dysgenesis (normal external female genitalia lack of pubertal development primary amenorrhea and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax micromelia brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides myopia coloboma of optic discs) dysmorphic features (deep-set eyes upslanting palpebral fissures puffy eyelids large ears and mouth mild prognathism) muscular hypoplasia mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia.

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 July 2024

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