| Primordial dwarfism | |
|---|---|
| Specialty | Medical genetics |
Primordial dwarfism (PD) is a form of dwarfism that results in a smaller body size in all stages of life beginning from before birth.[1] More specifically, primordial dwarfism is a diagnostic category including specific types of profoundly proportionate dwarfism, in which individuals are extremely small for their age, even as a fetus. Most individuals with primordial dwarfism are not diagnosed until they are about 3–5 years of age.
Medical professionals typically diagnose the fetus as being small for gestational age, or as showing intrauterine growth restriction when an ultrasound is conducted. Typically, people with primordial dwarfism are born with very low birth weights. After birth, growth continues at a much slower rate, leaving individuals with primordial dwarfism perpetually years behind their peers in stature and in weight.
Most cases of short stature are caused by skeletal or endocrine disorders. The five subtypes of primordial dwarfism are among the most severe forms of the 200 types of dwarfism.
There are as yet no effective treatments for primordial dwarfism. It is rare for individuals affected by primordial dwarfism to live past the age of 30.[2] In the case of microcephalic osteodysplastic primordial dwarfism type II (MOPDII), there can be increased risk of vascular problems, which may cause premature death.[3]