Other diagnoses similar to RSS

[Guest guest]

I was reading about RSS in the Physician's Guide to Rare Diseases & it said see

also

Floating Harbor Syndrome, SHORT Syndrome, & Lipodystrophy. Look at the

similarities

between these:

Floating Harbor Syndrome: characterized by short stature, delayed expressive

language

skills, triangular-shaped face, delay in bone age causing the head to appear

relatively

large with limbs & trunk in proportion, dental abnormalities are common, some

children

have delayed learing abilities, but no mental retardation; by age 3 or 4, child

has a broad

nose & nasal bridge, wide mouth with thin lips, deep-set eyes, abnormally long

eyelashes;

clinodactyly of 5th finger; clubbing of fingers, and hirsutism have been found

in some,

celiac sprue, pulmonary stenosis, & an additional thumb are less common.

SHORT Syndrome: acronyms for (S)hort stature, (H)yperextensibility, (O)cular

depression,

®ieger anomaly (growth retardation), (T)eething delay. Characterized by low

birthweight,

lipoatrophy (loss of fat) of the arms & face, inguinal hernias, a delay in

teething & speech,

receurrent viral infections, & Rieger anomaly, which can lead to glaucoma.

Craniofacial

features include a triangular-shaped face, a wide nasal brisge, micrognathia

(small

mouth), ears that protrude outward, sunken eyes, hypertelorism (wide spacing

between

body features such as eyes), and a down-turned mouth.

Lipodystrophy: rare inherited or acquired metabolic disorder associated with

defects in

adipose tissue that cause total or partial loss of body fat, irregularities of

carbohydrate

and lipid metabolism, marked indogeneous insulin resistance, and a

malfunctioning

immune system. 3 types: total, partial, & localized.

I am sure there are multiple disorders with similarities to RSS, but since I

came across

these, I thought I would share. Now don't everyone jump to concusions & go

running to

the doctor!!!!!

Kim C.