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Alpha 1-antitrypsin deficiency
Autism and Aspergers Syndrome
Benign Infantile Epilepsy
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Duchenne Muscular Dystrophy
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MADI AND JT
Nature of the Genetic Difficulty
The defect is on the gene on chromosome 21q22.3 causing microcephalic osteodysplastic primordial dwarfism type II. It is inherited in an autosomal recessive fashion.
Seckel syndrome is also a heterogeneous, autosomal recessive disorder that has been subclassified into types 1 through 4 depending on linkage to different chromosomal regions (3q22, 18p11, 14q, 21q22.3).
Basis Facts of Disease
Microcephalic osteodysplastic primordial dwarfism (MOPD) is characterized by intrauterine and postnatal growth retardation, short limbs (brachymelia), and microcephaly (Figure 1). The humeri and femora are broad, shortened, and bowed.
The first symptom of primordial dwarfism is the failure of the fetus to grow normally in the womb, a condition called intrauterine growth retardation (IUGR). At birth, the infant with primordial dwarfism is very small, usually weighing less than 3 pounds (1.4 kg) and is less than 16 inches in length. Often, the infant is born prematurely at about 35 weeks' gestation. He is fully formed and proportional, but very tiny. After birth, the child grows extremely slowly, and remains far behind his peers in weight and height. The child develops:
Change in body proportions -- the head grows more slowly than the rest of the body (microcephaly) and bones of the arms and legs shorten Loose joints with occasional dislocation or subluxation of the knees, elbows or hips Characteristic facial features associated with the particular syndrome; in MOPD II, prominent nose and eyes, abnormally small or missing teeth, and a high squeaky voice Spine problems such as curvature (scoliosis)
The outcome of this illness will basically be that you will be small for the rest of your life! There is no known treatment at this time. It is rare for individuals affected by primordial dwarfism to live past the age of 30. In the case of microcephalic osteodysplastic primordial dwarfism (MOPD) type II there can be increased risk of vascular problems, which may cause premature death. The effects of the disease is what eventually will kill the patient.
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