While genu valgum is often a symptom of genetic disorders it can be caused by poor nutrition. A major contributor to genu valgum is obesity, and far less commonly calcium and vitamin d deficiencies.

In most cases persisting after childhood, there is little or no effect on the ability to walk. Due to uneven stress and wear on the knees, however, even milder manifestations can see an accelerated onset of arthritis.

People with Pyle disease are often asymptomatic. Dental anomalies may require orthodontic interventions. Skeletal anomalies may require orthopedic surgery.

The degree of genu valgum can be estimated by the , which is the angle formed by a line drawn from the anterior superior iliac spine through the center of the patella and a line drawn from the center of the patella to the center of the tibial tubercle. In women, the Q angle should be less than 22 degrees with the knee in extension and less than 9 degrees with the knee in 90 degrees of flexion. In men, the Q angle should be less than 18 degrees with the knee in extension and less than 8 degrees with the knee in 90 degrees of flexion. A typical Q angle is 12 degrees for men and 17 degrees for women.

If a child is sickly, either with rickets or any other ailment that prevents ossification of the bones, or is improperly fed, the bowed condition may persist. Thus the chief cause of this deformity is rickets. Skeletal problems, infection, and tumors can also affect the growth of the leg, sometimes giving rise to a one-sided bow-leggedness. The remaining causes are occupational, especially among jockeys, and from physical trauma, the condition being very likely to supervene after accidents involving the condyles of the femur.

Studies have shown that obesity of the mother increases the risk of neural tube disorders such as iniencephaly by 1.7 fold while severe obesity increases the risk by over 3 fold.

Metaphyseal dysplasia, also known as Pyle's disease, Pyle's syndrome, Pyle-Cohn syndrome, and Bakwin-Krida syndrome is a rare disease in which the outer part of the shafts of long bones is thinner than normal and there is an increased chance of fractures.

Once a mother has given birth to a child with iniencephaly, risk of reoccurrence increases to 1-5%.

Multiple epiphyseal dysplasia (MED) encompasses a spectrum of skeletal disorders, most of which are inherited in an autosomal dominant form. However, there is an autosomal recessive form.

Associated genes include COL9A1, COL9A2, COL9A3, COMP, and MATN3.

Types include:

The following factors may be involved in causing this deformity:

- Inherent laxity of the knee ligaments

- Weakness of biceps femoris muscle

- Instability of the knee joint due to ligaments and joint capsule injuries

- Inappropriate alignment of the tibia and femur

- Malunion of the bones around the knee

- Weakness in the hip extensor muscles

- Gastrocnemius muscle weakness (in standing position)

- Upper motor neuron lesion (for example, hemiplegia as the result of a cerebrovascular accident)

- Lower motor neuron lesion (for example, in post-polio syndrome)

- Deficit in joint proprioception

- Lower limb length discrepancy

- Congenital genu recurvatum

- Cerebral palsy

- Multiple sclerosis

- Muscular dystrophy

- Limited dorsiflexion (plantar flexion contracture)

- Popliteus muscle weakness

- Connective tissue disorders. In these disorders, there are excessive joint mobility (joint hypermobility) problems. These disorders include:

- Marfan syndrome

- Ehlers-Danlos syndrome

- Benign hypermobile joint syndrome

- Osteogenesis imperfecta disease

Leri's pleonosteosis is a rare rheumatic condition. It was first described by the French physician Leri in 1921.

Fairbank's disease or multiple epiphyseal dysplasia (MED) is a rare genetic disorder (dominant form: 1 in 10,000 births) that affects the growing ends of bones. Long bones normally elongate by expansion of cartilage in the growth plate (epiphyseal plate) near their ends. As it expands outward from the growth plate, the cartilage mineralizes and hardens to become bone (ossification). In MED, this process is defective.

The most important factors of knee stability include:

- Ligaments of the knee: The knee joint is stabilized by four main ligaments:

- Anterior cruciate ligament (ACL). The ACL has an important role in stabilization of knee extension movement by preventing the knee from hyperextending.

- Posterior cruciate ligament (PCL)

- Medial collateral ligament (MCL)

- Lateral collateral ligament (LCL)

- Joint capsule or articular capsule (especially posterior knee capsule)

- Quadriceps femoris muscle

- Appropriate alignment of the femur and tibia (especially in knee extension position )

Seaver Cassidy syndrome is a very rare disorder characterized by certain facial, genital, and skeletal deformities, as well as an unusual susceptibility to bleeding. Seaver Cassidy syndrome was first described in 1991 by Laurie Seaver and Suzanne Cassidy.

It has been assigned the OMIM number of 151200.

It is inherited in an autosomal dominant fashion.

The pathogenesis of this condition appears to be due to over expression of two genes - GDF6 and SDC2. These genes are located on the long arm of chromosome 8(8q22.1).

As its name indicates, a person with the syndrome has one Y chromosome and four X chromosomes on the 23rd pair, thus having 49 chromosomes rather than the normal 46. As with most categories of aneuploidy disorders, 49,XXXXY syndrome is often accompanied by intellectual disability. It can be considered a form of 47, XXY Klinefelter syndrome, or a variant of it.

It is genetic but not hereditary. This means that while the genes of the parents cause the syndrome, there is a small chance of more than one child having the syndrome. The probability of inheriting the disease is about 1%.

The individuals with this syndrome are males, but 49, XXXXX also exists with similar characteristics.

Pseudoachondroplasia is inherited in an autosomal dominant manner, though one case of a very rare autosomal recessive form has been documented. The offspring of affected individuals are at 50% risk of inheriting the mutant allele. Prenatal testing by molecular genetic examination is available if the disease-causing mutation has been identified in an affected family member (Hecht et al. 1995).

There are several ways to determine if a child has chondrodystrophy, including parent testing and x-rays. If the fetus is suspected of having chondrodystrophy, the parents can be tested to find out if the fetus in fact does have the disease. It is not until the baby is born that a diagnosis can be declared. The diagnosis is declared with the help of several x-rays and charted bone growth patterns. Once the child is diagnosed the parents have to monitor the children because of several different factors. As the child gets older, hearing, eyesight and motor skills may be defective. Also, breathing (apnea) and weight problems (obesity) may occur. Structurally, scoliosis, bowed legs (genu varum), and arthritis may result.

Both average parents

1.) A couple already has a child with chondrodystrophy; the risk of inheritance for the next child to have the disorder is 0.1% (less than 1 in 1,000)

2.) The risk that the normal-statured child will have at least one offspring with this disorder is 0.01% (less than 1 in 10,000)

One parent with chondrodystrophy and one parent without

1.) One child with normal height; the probability of that child having offspring with chondrodystrophy is 0.01% (less than 1 in 10,000)

2.) One child with normal stature; the probability of the next having chondrodystrophy is 50% (1 in 2)

3.) One child with normal stature; the probability of the next not having chondrodystrophy is 50% (1 in 2)

Both parents with chondrodystrophy

1.) The probability of offspring affected by chondrodystrophy is 100% (4 in 4)

2.) The probability of offspring to be of normal size is 0% (0 in 4)

Specific populations at high risk of primary PFPS include runners, bicyclists, basketball players, young athletes and females.

Signs of Seaver Cassidy syndrome include several facial disorders, including hypertelorism and telecanthus, epicanthal folds, downslanting palpebral fissures, ptosis, a broad nasal bridge, malar hypoplasia, a thin upper lip, a smooth philtrum, and low-set, prominent ears. Males with Seaver Cassidy syndrome may also experience an underdeveloped shawl scrotum and cryptorchidism. Skeletal anomalies, such genu valgum, hyperextended joints, or cubitus valgus, may also be present.

Café au lait spots can arise from diverse and unrelated causes:

- Having six or more café au lait spots greater than 5 mm in diameter before puberty, or greater than 15 mm in diameter after puberty, is a diagnostic feature of neurofibromatosis type I, but other features are required to diagnose NF-1.

- Familial multiple café au lait spots have been observed without NF-1 diagnosis.

- They can be caused by vitiligo in the rare McCune–Albright syndrome.

- Legius syndrome

- Tuberous sclerosis

- Fanconi anemia

- Idiopathic

- Ataxia-telangiectasia

- Basal cell nevus syndrome

- Benign congenital skin lesion

- Bloom syndrome

- Chédiak–Higashi syndrome

- Congenital naevus

- Gaucher disease

- Hunter syndrome

- Jaffe–Campanacci syndrome

- Maffucci syndrome

- Multiple mucosal neuroma syndrome

- Noonan syndrome

- Pulmonary Stenosis

- Silver–Russell syndrome

- Watson syndrome

- Wiskott–Aldrich syndrome

About 25% of people over the age of 50 experience knee pain from degenerative knee diseases.

Pseudoachondroplasia is one of the most common skeletal dysplasias affecting all racial groups. However, no precise incidence figures are currently available (Suri et al. 2004).

Although the epidemiologic data indicate that all variants of normal growth are twice as common in boys as in girls, referrals for short stature reflect an even more divergent sex ratio. This likely reflects greater concern about males who are shorter than their peers or who have delayed sexual development.

No racial bias has been identified. Patterns of growth consistent with CDGP occur in infants as young as 3–6 months. However, individuals often do not seek medical attention until puberty, when lack of sexual development becomes a concern and discrepancy in height from peers is magnified by the delay in pubertal growth spurt.