Monosomy 9p
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 http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Monosomy 9p?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Rare Chromosome Disorder Support Group – Unique
Providing support and information to anyone affected by a rare chromosome or gene disorder, their families and the professionals caring for them.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.