Monosomy 9p (also known as Alfis Syndrome or simply 9P-) is a rare chromosomal disorder in which some DNA is missing or has been deleted on the short arm region, “p”, of one of the 9th Chromosomes (9p22.2-p23). This deletion either happens de novo or a result of a parent having the chromosome abnormality. This rare chromosome abnormality is often diagnosed after birth when development delay, irregular facial features, and structural irregularities within the heart, and genital defects are noticed. Treatments for this syndrome usually focus on fixing the common malformations associated with this syndrome. Chromosome 9p deletion syndrome was first discovered in 1973 when 3 infants with similar clinical features were observed to have a partial deletion of the short arm of Chromosome 9. Symptoms include microgenitalia, intellectual disability with microcephaly and dysmorphic features. Signs and Symptoms
Psychomotor Development Delays
Psychomotor development refers to the changes experienced directly after birth through adolescence. Development occurs in cognitive, emotional, motor, and social skills over the childs growth and a delay can result in lagging development of language, motor skills, cognition, or social skills, however these delays can vary in severity. Facial Dysmorphism
Facial Dysmorphisms broadly describe any abnormalities in facial structure. Facial Dysmorphisms include slopping forehead, frontal bossing (prominent protruding forehead), hemifacial microsomia (one side of the face underdeveloped), and otocephaly (absence of mandible and fusion of ears under chin). Malformation of Limbs
Congenital limb defects occur when a fetus limbs, either upper or lower, experience altered development.
Most of time chromosome 9p deletion syndrome is diagnosed after birth by the detection of symptoms via clinical evaluation. Common methods used to detect Monosomy 9p after birth include the use of a stethoscope, X-ray, and EKG. Monosomy 9p is also diagnosed before birth by ultrasound, amniocentesis, and chorionic villus sampling (CVS). Ultrasound can hint at the malformations of the face, limbs, and heart. While amniocentesis and CVS both use fluid and tissue to perform chromosomal studies to identify chromosomal abnormalities. Finally, karyotyping, a procedure used to examine a patients chromosomes, can be used to diagnose Monosomy 9p both before birth and after birth. Management
Treatment of Monosomy 9p focuses mainly on fixing the malformations. For example, to fix facial malformations, physicians can perform facial surgery to repair the facial malformations. This can open airways for the infant or patient; especially the nose-to-throat pathway. Similarly, to fix heart malformations, physicians can recommend surgery or medication to improve the efficiency of the pumping of the heart. Lastly remedial education, speech therapy, and physical therapy can be used to improve the developmental delay associated with the syndrome. Epidemiology
Chromosome 9p deletion syndrome occurs 1 in 50,000 births. Half of the cases occur sporadically, while the other half of cases result from parent translocations or the parent having deletion as well. References


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