RSS is a condition present at birth, that involves poor growth, low birth weight, short height, and size differences (asymmetry) in parts of the body. Other signs and symptoms may include poor appetite; low blood sugar as a result of feeding difficulties; lack of interest in eating; a large head relative to the body; a small, triangular face with a wide protruding forehead and small, narrow chin; down-turned corners of the mouth; high arched palate; delayed development; learning disabilities; birthmarks; a pinky finger that curves toward the ring finger; webbing of the 2nd and 3rd toes; narrow, flat feet; delayed bone age; failure to thrive; gastroesophageal reflux disease; kidney problems; short arms; and delayed stomach emptying and constipation. Not all of these symptoms are present in every person with RSS. Most people have no family history of this illness and only 60% of people with RSS have a genetic abnormality. Males and females are affected equally. This disorder does not affect life expectancy.
How Common is It?
The estimated number of people who develop this condition varies greatly. Some sources say it affects about 1 in 3,000 people. Other reports say it affects 1 in 100,000 people.
What about Diagnosis and Treatment?There is no specific blood test for RSS, but a child's pediatrician can diagnose RSS by performing a few other tests such as blood sugar, bone age testing, chromosomal testing, and skeletal surveys. If there is a chromosomal abnormality, it will typically be on the 7th or 11th chromosome.
If necessary, RSS can be treated using growth hormone replacements. Other treatments can include physical therapy to improve muscle tone, nutritional therapy to prevent low blood sugar and encourage growth, and speech therapy. Some children may have learning disabilities or problems talking or eating because their jaw is small.
What is the Social and Emotional Impact?
Having a child diagnosed with a rare disorder can be extremely stressful for parents and other family members. Family dynamics may shift. Going to various treatments can become the main focus, leaving little time for anything else. Parents may experience guilt, depression, resentment, or anxiety when facing a diagnosis of RSS. Emotional support for both the family and person with RSS can be helpful.
The social and emotional impact on the individual with RSS also varies widely. Different individuals might have different severities of RSS. If there are many physical abnormalities, a child might be self-conscious, or endure teasing or bullying from others. Having speech or eating or learning disabilities can create challenges that the child will need special therapies for. The cost of these therapies- and of growth hormone medications- can be daunting for the family. Because of the small stature of some people with RSS, finding clothes in their size can be difficult as well.
Not many research studies exist about the social and emotional impact of RSS, but there are many studies on the impact of dwarfism. One study I was able to find specifically on RSS was a small qualitative study from Taiwan on the family caregiver distress that goes along with RSS. Parents worried about their child feeling different from others and about their future development. They had endured much stress from the child's illness and were frustrated by the lack of knowledge from physicians, and the unpredictability of the illness. This study highlighted the need for psycho-education around positive dynamic family interactions, life-stage development and family caregiver support systems.
The MAGIC Foundation- Provides information and opportunities to chat with other families affected by RSS, or join a private Facebook groups for parents, kids, or adults.RSS People- An online magazine for those affected by RSS including fashion links for clothing sites