Distal deletion 9p
Synonyms: Distal monosomy 9p | Monosomy 9pter | Telomeric deletion 9p
Distal monosomy 9p is a rare chromosomal anomaly syndrome resulting from a partial deletion of the short arm of chromosome 9 with a highly variable phenotype typically characterized by intellectual disability craniofacial dysmorphism (trigonocephaly upslanting palpebral fissures hypoplastic supraorbital ridges) abnormal digits (long middle phalanges with short distal phalanges) as well as frequent association with genitourinary abnormalities (cryptorchidism hypospadias ambiguous genitalia 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma.
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 September 2023.
Newly diagnosed with
Distal deletion 9p?
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