Monosomy 9p

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Synonyms: 9p deletion syndrome | 9p- syndrome | Alfi syndrome

Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay facial dysmorphism (trigonocephaly midface hypoplasia upslanting palpebral fissures dysplastic small ears flat nasal bridge with anteverted nostrils and long philtrum micrognathia choanal atresia short neck) single umbilical artery omphalocele inguinal or umbilical hernia genital abnormalities (hypospadia cryptorchidism) muscular hypotonia and scoliosis.

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 July 2024

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Monosomy 9p?

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