Hutchinson-Gilford Progeria Syndrome
Hutchinson-Gilford Progeria Syndrome by Jack Be Nimble
Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare, fatal genetic condition that is characterized by premature aging in children. Its name is derived from the Greek and means “prematurely old.” There are different forms of Progeria, but we will be looking at the classic form that was named after the doctors who first discovered it, Dr. Jonathon Hutchinson in 1886 and Dr. Hastings Gilford in 1897.
Progeria is a very rare disease and affects about one in 4-8 million children, with an estimated 200-250 cases worldwide. It affects males and females equally and is found in all races. HGPS is not usually passed down in families; it’s extremely rare and almost always happens by chance. It’s known as a “sporadic autosomal dominant “mutation, meaning that it’s a new change in that family, and only needs to occur in one copy of a gene in order for a child to be affected by it. Infants are born looking healthy and don’t display characteristics of Progeria until they are around 12-24 months old, and then they start displaying features of accelerated aging. This disease causes them to age up to eight times faster than normal. The children all have a notably similar appearance even with differing cultural backgrounds. Their average life expectancy is around 13 years old although there are some who have lived until 20 years old, which most do not do. The following is a partial list of characteristics in children with Progeria that display after the age of 3 years old.
Skeletal system/Joints: * Pointed Nasal Tip, narrow nose bridge * Delayed closing of the “Soft Spot” on head * Arthritis * Thin limbs * “Horse-riding” stance
Growth
* Head too large for face * Low weight * Thin, high-pitched voice * Shortness, for life
Hair/Nails/Skin
* Alopecia (hair loss that can be all over the body, no eyelashes or eyebrows) * Tight, dry, aged looking skin * Finger/toe
Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare, fatal genetic condition that is characterized by premature aging in children. Its name is derived from the Greek and means “prematurely old.” There are different forms of Progeria, but we will be looking at the classic form that was named after the doctors who first discovered it, Dr. Jonathon Hutchinson in 1886 and Dr. Hastings Gilford in 1897.
Progeria is a very rare disease and affects about one in 4-8 million children, with an estimated 200-250 cases worldwide. It affects males and females equally and is found in all races. HGPS is not usually passed down in families; it’s extremely rare and almost always happens by chance. It’s known as a “sporadic autosomal dominant “mutation, meaning that it’s a new change in that family, and only needs to occur in one copy of a gene in order for a child to be affected by it. Infants are born looking healthy and don’t display characteristics of Progeria until they are around 12-24 months old, and then they start displaying features of accelerated aging. This disease causes them to age up to eight times faster than normal. The children all have a notably similar appearance even with differing cultural backgrounds. Their average life expectancy is around 13 years old although there are some who have lived until 20 years old, which most do not do. The following is a partial list of characteristics in children with Progeria that display after the age of 3 years old.
Skeletal system/Joints: * Pointed Nasal Tip, narrow nose bridge * Delayed closing of the “Soft Spot” on head * Arthritis * Thin limbs * “Horse-riding” stance
Growth
* Head too large for face * Low weight * Thin, high-pitched voice * Shortness, for life
Hair/Nails/Skin
* Alopecia (hair loss that can be all over the body, no eyelashes or eyebrows) * Tight, dry, aged looking skin * Finger/toe