Alfi's Syndrome: Symptoms, Genetics, Diagnosis, Prognosis, and Treatments
Signs and Symptoms
The symptoms of Alfi’s syndrome are very similar to the symptoms of <strong>Down syndrome</strong>, which include mental retardation, mongoloid eyes, abnormally shaped forehead (trigonocephaly), unusually flat midfacial regions (midfacial hypoplasia), long upper lip, cleft lip and palate, anteverted nostrils, arched eyebrows, white flat nasal bridge, small ears, short nose, small jaw, short and broad neck, genital defects (very small genitals), congenital heart defects, extra fingers, long digits, predominant whorls on fingers, seizure disorders, and poor muscle tone. Children with this disorder are described as overly friendly and trusting of strangers.
Genetics
Alfi’s syndrome, also called 9p minus or monosomy 9p, is caused by a spontaneous deletion of a small portion of the short arm (p) of chromosome 9 during early fetal growth process. Geneticists have identified the exact location of the deletion: 9p22.2-p23. This chromosomal deletion occurs for unknown reasons and is usually sporadic which means it occurs in families without a history of the disorder. With the deletion, important genes are lost including genes involved in organogenesis or organ development. The lost genes also interact with other genes of chromosome 9 or other chromosomes to express a particular trait or phenotype.
Diagnosis
Diagnosis of Alfi’s syndrome is often based upon the symptoms of the disorder. Prenatal testing like <strong>amniocentesis</strong>s can also be done to detect chromosomal abnormality. In amniocentesis, a small amount of amniotic fluid containing fetal tissues is extracted from the amniotic sac surrounding a developing fetus, and then chromosomes from the tissues are examined by an experienced geneticist. A missing portion of chromosome nine’s p arm can indicate Alfi’s syndrome. Genetic testing can also be done after the baby is born to confirm diagnosis based on the symptoms.
Prevalence and Prognosis
Alfi’s syndrome is extremely rare, affecting more than one hundred babies worldwide. Because it is rare, there is little information about the disorder.
The prognosis of the disorder varies depending on the type and severity of the symptoms. Some babies with minor cognitive impairment and few organ defects are able to live fairly normal and longer lives. But babies with severe conditions may have shorter lifespan and greatly need continual care and support from parents or caregivers. Few babies die just after birth due to organ failure or complications.
Alfi’s syndrome requires a lot of medical attention including a variety of therapies from a range of specialists including pediatricians, neurologists, speech therapists, and physiotherapists.
Leukemia and lymphoma are among the reported complications of the disorder.
Treatment
Like other chromosomal disorders, Alfi’s syndrome has no cure but there are ways to manage the symptoms. Surgery can be used to remove extra digits and fix heart defects, cleft lips and palates, and other facial abnormalities. Internal organs with defects can be replaced through organ transplantation.
Since children with the disorder have mental disability, the love and care of parents and siblings are greatly needed. There are support groups out there for parents of affected children.
There are programs and services for children with Alfi’s syndrome such as speech and physical therapy programs, educational and vocational support, and social and medical services.
References
The Ninth Chromosome by Lisa Kim Bach
Alfi O.S. 1976. The 9p- syndrome. Ann. Genetics
