This disorder has two types — the autosomal dominant type is caused by mutations in PKD1 and PKD2 genes whereas the autosomal recessive type is caused by mutations in the PKDH1 gene.

Diagnosed through blood tests by looking at the levels of calcium to determine if the child has hypercalcemia.

Short stature, growth delay, friendly & outgoing, cardiovascular problems, musculoskeletal abnormalities, and distinct physical features (broad forehead, short nose, full cheeks).

It helps to spurs growth in children and adolescents. It also helps to regulate body composition, and maintain muscle and bone growth, which is the main reason it is used for people with Achondroplasia.

There are cardiovascular problems associated with William syndrome which is costly. It is hard to financially support those with williams syndrome because of medical costs.There are not much known about life expectancy but there has been people living into their sixties.

This is an autosomal dominant mutation on chromosome 7 located on q11.23. This mutation causes a deletion of the gene elastin which is a protein that is in connective tissues that returns tissue to its original form when stretched or contracted. There is a 50% chance of inheriting this disorder.

This type of procedure MUST be conducted in order to diagnose polycystic kidney disease.

Enlarged kidneys and hypertension.

Those that have William syndrome are often outgoing and social. They may need speech therapy to learn to communicate well with others and read social cues.

Infants born with myotonic dystrophy 1 will most likely suffer from an early death. They will be unable to breath and eat without the support of machines, and often have severe cognitive defects that cause behavioral and intellectual issues later on in life.

An autosomal dominant mutation of the FBN1 gene located on 15q21.1 which causes a lack of fibrillin, resulting in weak connective tissues and overgrowth.

A doctor can tap the spot below a person’s thumb with a rubber hammer. Normal people show little to response, while people with myotonia have a rapid contraction of their muscle. This usually takes a few seconds to return to normal.

Overgrowth, disproportionate physique, scoliosis, ectopia lentis, Sunken or jutting chest, crowded teeth, crowded teeth, and aortic enlargement.

Marfan syndrome patients are typically given two types of medication: one that reduces the strength and frequency of the contractions of the heart to limit the dilation of the aortic root and another that helps lower the activities of excess growth factors.

Patients have 39% more physician visits, 153% longer average length hospital stays, 119% more inpatient stays, 33% more prescriptions, 236% more medical imaging, and 20% higher prescription costs.

An autosomal dominant mutation of the DMPK gene located on 19q13.32. It creates longer, toxic mRNAs that clumps proteins together. Since the form of the protein is affected, so is the function, which goes on to prevent muscle cells from working as they should.

The checklist used to diagnose Marfan syndrome; Involves the z score of aortic root dilation and other symptoms such as ectopia lentis.

Myotonia (inability to relax muscles after contracting), muscle weakness/pain, cataracts, heart complications such as arrhythmias, and trouble breathing.

One-third of those diagnosed with polycystic kidney disease must have one of these two procedures done to treat kidney failure before the age of 10.

People with polycystic kidney disease measure kidney function through this quantitative factor.

An autosomal dominant mutation of the FGF3R gene located on chromosome 4 which is overactive when mutated and limits bone growth. The FGF3R gene instructs the body to make proteins necessary for bone growth.

During Pregnancy: Some characteristics can be detectable through an ultrasound such as a large forehead.
After Child is Born: The doctor can diagnose the child by looking at his or her features. X-rays can be used to measure the length of the infant’s bones.

Short stature (usually under 4 feet 6 inches), unusually large head with a prominent forehead, short arms and legs, and fingers, prominent abdomen and buttocks due to the inward curve of the spine.

A patient with myotonic dystrophy 1 may need all of the mentioned treatments. The cataract surgery is used to correct cataracts in the eyes, the pacemaker is used for complications in the heart, and the speech/physical therapy is necessary for those with muscle pain.

Homozygous people only survive for a few weeks after birth due to constriction of the thoracic cage. Heterozygotes lead a normal life except for the adjustments they need to make to ensure they have proper back and neck support.