Thanatophoric dysplasia

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

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Symptoms

Infants with this condition have disproportionately short arms and legs with extra folds of skin. Other signs of the disorder include a narrow chest, small ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes.

Causes

It can be associated with missense mutations in fibroblast growth factor receptor-3.^[1][2]

Classification

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

An unusual head shape called craniosynostosis ("cloverleaf skull") is seen with type 2 thanatophoric dysplasia.^[3]

Prognosis

The term thanatophoric is Greek for "death bearing". Infants with this condition are usually stillborn or die shortly after birth from respiratory failure; however, some children have survived into childhood with significant medical help. These children are severely mentally handicapped due to a variety of brain abnormalities and have difficulty breathing on their own.

Incidence/Prevalence

This condition affects about 1 in 60,000 births.^[4]

References

feet (Club foot, Flat feet, Pes cavus)

head, face, spine and chest: skull, face and jaw (Dolichocephaly, Plagiocephaly) - Scoliosis - chest (Pectus excavatum, Pectus carinatum)

Polydactyly/Syndactyly (Webbed toes)

reduction deficits (Ectrodactyly, Amelia, Phocomelia)

upper limb (Cleidocranial dysostosis, Madelung's deformity, Sprengel's deformity)

knee (Genu valgum, Genu varum)