Syndrome, chromosome 4 short-arm deletion
This syndrome, called the Wolf-Hirschhorn syndrome, is a chromosome disorder due to partial deletion of the short (p) arm of chromosome 4. It is, therefore, also called the 4p- syndrome.
Features of the syndrome include midline defects with a scalp defect, widespaced eyes, broad or beaked nose, oral facial clefts (cleft lip/palate); low simple ears with a dimple in front of the ear; small &/or asymmetrical head; heart defects; and seizures (that tends to diminish with age).
There is severe to profound developmental and mental retardation. Some patients do learn to walk with or without support and some achieve sphincter control (by day). There is usually very slow progress in development.
Most (nearly 90% of the cases of the syndrome are due to de novo (newly occurring) partial deletions of the short (p) arm of chromosome 4. In the remaining 10% or so of cases, one of the parents has a balanced chromosome rearrangement involving chromosome 4p from which the child’s 4p- is derived. Parents of 4p- children should therefore have chromosome studies themselves.
The syndrome is named for K. Hirschhorn and German U. Wolf who independently found the 4p- chromosome abnormality in the 1960s.
Read Also:
- Syndrome, chromosome 4p-
The 4p- syndrome or Wolf-Hirschhorn syndrome, is a chromosome disorder due to partial deletion of the short (p) arm of chromosome 4. It is, therefore, also called the 4p- syndrome. Features of the syndrome include midline defects with a scalp defect, widespaced eyes, broad or beaked nose, oral facial clefts (cleft lip/palate); low simple ears […]
- Syndrome, Coffin-Lowry
An X-linked form of mental retardation in which the affected males have short stature and characteristic face, finger and skeletal abnormalities. Facial features include prominent forehead, widespread eyes, downslanting eyeslits, prominent ears, thick lips and irregular/missing teeth. The hands are large and soft with lax skin and tapering fingers. Skeletal changes include kyphosis/scoliosis and pectus […]
- Syndrome, Cogan
A form of arteritis (also referred to as vasculitis) that involves the ear. This condition is called Cogan syndrome after the American ophthalmologist David Glendenning Cogan (1908-93) who first described it. Cogan syndrome features not only problems of the hearing and balance portions of the ear, but also inflammation of the front of the eye […]
- Syndrome, complete androgen insensitivity
A genetic disorder that makes XY fetuses insensitive (unresponsive) to androgens (male hormones) because of a lack of a receptor for testosterone on the cells. Instead, they are born looking externally like normal girls. Internally there is a short blind-pouch vagina and no uterus, Fallopian tubes, or ovaries. There are testes in the abdomen or […]
- Syndrome, congenital central hypoventilation
Congenital central hypoventilation syndrome.