Chromosome 9- monosomy 9p

December 31, 2014

Overview

A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is missing resulting in various abnormalities.

Symptoms

* Craniostenosis * Trigonocephaly * Flat back of skull * Up-slanting space between eyelids * Epicanthal folds * Prominent eyes * Hypoplastic supraorbital ridges * Highly arched eyebrows * Midfacial hypoplasia * Short nose * Depressed nasal bridge * Anteverted nostrils * Long philtrum * Small ears * Retrognathia * Middle ear deformity * Long upper lip * Arched eyebrows * Reduced muscle tone * Low hairline * Small mouth * Malformed ears * Hypoplastic adherent ear lobes * Short neck * Broad neck * Low neck hairline * Long middle bones of fingers * Extra finger flexion creases * Short end bones of fingers * Short nails * Excessive whorls on fingertips * Abnormal foot positioning * Simian crease * Ventricular septal defects * Patent ductus arteriosus * Pulmonic stenosis * Scoliosis * Widely spaced nipples * Diastasis recti * Inguinal hernia * Umbilical hernia * Small penis * Undescended testes in males * Hypoplastic labia majora in females * Heart murmur * Mental retardation * Growth retardation * Seizure disorders

Diagnosis

signs and symptoms of Chromosome 9, monosomy 9p may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Chromosome 9, monosomy 9p symptoms.

Resources

Chromosome 9, monosomy 9p is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Chromosome 9, monosomy 9p, or a subtype of Chromosome 9, monosomy 9p, affects less than 200,000 people in the US population. Name and Aliases of Chromosome 9, monosomy 9p:- Main name of condition: Chromosome 9, monosomy 9p Other names or spellings for Chromosome 9, monosomy 9p: 9p- syndrome, 9p deletion syndrome, chromosome 9p monosomy, del(9p) syndrome, deletion 9p syndrome, monosomy 9p, partial monosomy 9p, Deletion 9p Deletion 9p, Monosomy 9p Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)