Diagnosis is mostly clinical and radiological. Technetium skeletal scintigrams are occasionally used to determine number of exostoses.

Diagnosis may be suspected on the basis of the clinical and radiologic findings, and can supported by molecular analysis of the SHOX, SHOXY and PAR1 genes.

May also be suspected by ultrasound during the second trimester of gestation.

Physical examination shows that the lower legs angle inward. An x-ray of the knee and the lower leg confirms the diagnosis.

Diagnosis is based on clinical findings.

'Clinical findings'

- Profound congenital sensorineural deafness is present

- CT scan or MRI of the inner ear shows no recognizable structure in the inner ear.

- As michel's aplasia is associated with LAMM syndrome there will be Microtia and microdontia present(small sized teeth).

Molecular genetic Testing

1. "FGF3" is the only gene, whose mutation can cause congenital deafness with Michel's aplasia, microdontia and microtia

Carrier testing for at-risk relatives requires identification of mutations which are responsible for occurrence of disease in the family.

"In utero" sonographic diagnosis is possible when characteristic features such as bilateral bowed femurs and tibia, clubbed feet, prominent curvature of the neck, a bell-shaped chest, pelvic dilation, and/or an undersized jaw are apparent

Radiographic techniques are generally used only postnatally and also rely on prototypical physical characteristics.

Genetic screening is also typically done postnatally, including PCR typing of microsatellite DNA and STS markers as well as comparative genomic hybridization (CGH) studies using DNA microarrays.

In some cases PCR and sequencing of the entire "SOX9" gene is used to diagnose CMD.

Many different translocation breakpoints and related chromosomal aberrations in patients with CMD have been identified.

For most cases the diagnosis for congenital amputation is not made until the infant is born. One procedure that is helpful in determining this condition in an infant is an ultrasound examination of a fetus when still in the mother's abdomen as it can reveal the absence of a limb. However, since ultrasounds are routine they may not pick up all the signs of some of the more subtle birth defects.

The most popular method of treatment for congenital amputation is having the child be fit for a prosthesis which can lead to normal development, so the muscles don't atrophy. If there is congenital amputation of the fingers, plastic surgery can be performed by using the big toe or second toes in place of the missing fingers of the hand.

In rare cases of amniotic banding syndrome, if diagnosed "in utero", fetal surgery may be considered to save a limb which is in danger of amputation.

Some parents of children with MHE have observed autism-like social problems in their children. To explore those observations more deeply, a 2012 study by the Sanford-Burnham Medical Research Institute used a mouse model of MHE to observe cognitive function. The findings indicated that the mutant mice endorsed three autistic characteristics: social impairment, impairments in ultrasonic vocalization, and repetitive behavior.

Depending on the severity of the deformities, the treatment may include the amputation of the foot or part of the leg, lengthening of the femur, extension prosthesis, or custom shoe lifts. Amputation usually requires the use of prosthesis. Another alternative is a rotationplasty procedure, also known as Van Ness surgery. In this situation the foot and ankle are surgically removed, then attached to the femur. This creates a functional "knee joint". This allows the patient to be fit with a below knee prosthesis vs a traditional above knee prosthesis.

In less severe cases, the use of an Ilizarov apparatus can be successful in conjunction with hip and knee surgeries (depending on the status of the femoral head/kneecap) to extend the femur length to normal ranges. This method of treatment can be problematic in that the Ilizarov might need to be applied both during early childhood (to keep the femur from being extremely short at the onset of growth) and after puberty (to match leg lengths after growth has ended). The clear benefit of this approach, however, is that no prosthetics are needed and at the conclusion of surgical procedures the patient will not be biologically or anatomically different from a person born without PFFD.

There is no known cure. In selected patients orthopaedic surgery may be helpful to try to gain some functionality of severely impaired joints.

Children who develop severe bowing before the age of 3 may be treated with knee ankle foot orthoses. However, bracing may fail, or bowing may not be detected until the child is older. In some cases, surgery may be performed. Surgery may involve cutting the shin bone (tibia) to realign it, and sometimes lengthen it as well.

Other times, the growth of just the outer half of the tibia can be surgically restricted to allow the child’s natural growth to reverse the bowing process. This second, much smaller surgery is most effective in children with less severe bowing and significant growth remaining.

Return to normal function and cosmetic appearance is expected if the knee can be properly aligned.

Segond and reverse Segond fractures are characterized by a small avulsion, or "chip", fragment of characteristic size that is best seen on plain radiography in the anterior-posterior plane. The chip of bone may be very difficult to see on the plain x-ray exam, and may be better seen on computed tomography. MRI may be useful for visualization of the associated bone marrow edema of the underlying tibial plateau on fat- saturated T2W and STIR images, as well as the associated findings of ligamentous and/or meniscal injury.

Studies suggest that prenatal care for mothers during their pregnancies can prevent congenital amputation. Knowing environmental and genetic risks is also important. Heavy exposure to chemicals, smoking, alcohol, poor diet, or engaging in any other teratogenic activities while pregnant can increase the risk of having a child born with a congenital amputation. Folic acid is a multivitamin that has been found to reduce birth defects.

The cause of fibular hemimelia is unclear. Purportedly, there have been some incidents of genetic distribution in a family; however, this does not account for all cases. Maternal viral infections, embryonic trauma, teratogenic environmental exposures or vascular dysgenesis (failure of the embryo to form a satisfactory blood supply) between four and seven weeks gestation are considered possible causes.

In an experimental mouse model, change in the expression of a homeobox gene led to similar, but bilateral, fibular defects.

Fibular hemimelia or longitudinal fibular deficiency is "the congenital absence of the fibula and it is the most common congenital absence of long bone of the extremities." It is the shortening of the fibula at birth, or the complete lack thereof. In humans, the disorder can be noted by ultrasound in utero to prepare for amputation after birth or complex bone lengthening surgery. The amputation usually takes place at six months with removal of portions of the legs to prepare them for prosthetic use. The other treatments which include repeated corrective osteotomies and leg-lengthening surgery (Ilizarov apparatus) are costly and associated with residual deformity.

Generally, no treatment is required for idiopathic presentation as it is a normal anatomical variant in young children. Treatment is indicated when it persists beyond 3 and a half years old. In the case of unilateral presentation or progressive worsening of the curvature, when caused by rickets, the most important thing is to treat the constitutional disease, at the same time instructing the care-giver never to place the child on its feet. In many cases this is quite sufficient in itself to effect a cure, but matters can be hastened somewhat by applying splints. When the deformity arises in older patients, either from trauma or occupation, the only permanent treatment is surgery, but orthopaedic bracing can provide relief.

Treatment for children with Blount's disease is typically braces but surgery may also be necessary, especially for teenagers. The operation consists of removing a piece of tibia, breaking the fibula and straightening out the bone; there is also a choice of elongating the legs. If not treated early enough, the condition worsens quickly.

This can be done by annual evaluations by multidiciplinary team involving otolaryngologist, clinical geneticist, a pediatrician, the expertise of an educator of the deaf, a neurologist is appropriate.

Because of the high rate of associated ligamentous and meniscal injury, the presence of a Segond or reverse Segond fracture requires that these other pathologies must be specifically ruled out. Increasingly, reconstruction of the ACL is combined with reconstruction of the ALL when this associated pathology is present. It is often associated with an increased 'pivot shift' on physical exam.

The cause of PFFD is uncertain. Two hypotheses have been advanced. The theory of sclerotome subtraction posits injury to neural crest cells that are the precursors to sensory nerves at the level of L4 and L5. Histologic studies of a fetus with unilateral PFFD have prompted an alternative hypothesis that PFFD is caused by a defect in maturation of chondrocytes (cartilage cells) at the growth plate. In either hypothesis, the agent causing the injury is usually not known. Thalidomide is known to cause PFFD when the mother is exposed to it in the fifth or sixth week of pregnancy, and it is speculated that exposure to other toxins during pregnancy may also be a cause. Other etiologies that have been suggested, but not proven, include anoxia, ischemia, radiation, infection, hormones, and mechanical force. PFFD occurs sporadically, and does not appear to be hereditary.

Osteofibrous dysplasia is treated with marginal resection with or without bone grafting, depending on the size of the lesion and the extent of bony involvement. However, due to the high rate of recurrence in skeletally immature individuals, this procedure is usually postponed until skeletal maturity.

Hypophalangism is a congenital absence of one or more phalanges (bones of the fingers and toes).

It can result from syphilis, yaws, Paget's disease of bone, Vitamin D deficiency, or Weismann-Netter-Stuhl syndrome.

It can be due to osteomalacia

Saber refers to the tibia's resemblance to the curve of a saber sword.

Léri–Weill dyschondrosteosis or LWD is a rare pseudoautosomal dominant genetic disorder which results in dwarfism with short forearms and legs (mesomelic dwarfism) and a bayonet-like deformity of the forearms (Madelung's deformity).