Alfi's Syndrome

By Brian Tew

Names

9p minus syndrome

Causes

Alfi's syndrome is caused by a spontaneous deletion of a small portion of the short arm (p) of chromosome 9 during early fetal growth process.

Genes Affected

9p22.2-p23.

Prenatal Tests

There are none

Symptoms

The symptoms of Alfi's syndrome are very similar to the symptoms of down syndrome, 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.

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Who is affected

Alfi's syndrome is extremely rare, affecting more than one hundred babies worldwide. Because it is rare, there is little information about the disorder.

Inheritance

This chromosomal deletion occurs for unknown reasons and is usually sporadic which means it occurs in families without a history 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.

Prevention

No way to prevent it

Future

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.

Research

It is a rare disease so research is being done but there is no cure.