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Monosomy 9p

Disease definition

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.


Classification level: Disorder
  • Synonym(s):
    • 9p deletion syndrome
    • 9p- syndrome
    • Alfi syndrome
  • Prevalence: -
  • Inheritance: -
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q93.5
  • OMIM: 158170
  • UMLS: C0795830
  • MeSH: -
  • GARD: 3773
  • MedDRA: -

Detailed information

General public


ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)
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