thanatophoric dysplasia
thanatophoric dwarfism , TD (Abkürzung) *

An unusual head shape called kleeblattschädel ("cloverleaf skull") can be seen with type 2 thanatophoric dysplasia.

There are two other syndromes with a genetic basis similar to achondroplasia: hypochondroplasia and thanatophoric dysplasia.

Thanatophoric dysplasia is a lethal skeletal dysplasia divided into two subtypes.

If prematurity is not too severe, a child born with thanatophoric dysplasia who receives ventilator support from birth has a good chance of survival.

Thanatophoric dysplasia is a severe skeletal disorder characterized by a disproportionately small ribcage, extremely short limbs and folds of extra skin on the arms and legs.

Infants with type 1 thanatophoric dysplasia also have curved thigh bones, flattened bones of the spine (platyspondyly) and shortened thoracic ribs.

However, mutations in this pathway have been implicated in severe forms of dwarfism: thanatophoric dysplasia (lethal) and achondroplasic dwarfism (viable).

Many of the features of SADDAN are similar to those seen in other skeletal disorders, specifically achondroplasia and thanatophoric dysplasia.

Achondroplasia is one of 19 congenital conditions with similar presentations, such as osteogenesis imperfecta, multiple epiphyseal dysplasia tarda, achondrogenesis, osteopetrosis, and thanatophoric dysplasia.

Critics note that Bush did give his support to medical professionals making end-of-life decisions for patients unable to express their wishes, such as Sun Hudson, a six-month-old boy born with thanatophoric dysplasia.

Thanatophoric dysplasia, so named because of its lethality at birth, is the most common lethal congenital skeletal dysplasia with an estimated prevalence of one in 6,400 to one in 16,700 births.

In 2005, a six-month-old infant, Sun Hudson, with a uniformly fatal disease thanatophoric dysplasia, was the first patient in which "a United States court has allowed life-sustaining treatment to be withdrawn from a pediatric patient over the objections of the child's parent."

Hudson gave birth to a son with an unknown father (she is said to believe his father was the Sun) on September 25, 2004, at St. Luke's Episcopal Hospital in Houston, Texas, with thanatophoric dysplasia, a typically fatal form of congenital dwarfism.

The condition is associated with thanatophoric dwarfism.

FGFR3: fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism, bladder cancer)