CONGENITAL DISORDERS OF THE MUSCULO-SKELETAL SYSTEM

Congenital Talipes Equinovarus ( Clubfoot)

congenital talipes equinovarus, or clubfoot is defined as a fixation of the foot in a hand-like

orientation – in adduction, supination and varus – with concomitant soft tissue abnormalities.
There is fixation of the foot in adduction, in supination and in varus, i.e. inclined inwards, axially
rotated outwards and pointing downward. The calcaneus, navicular and cuboid bones are
medially rotated in relation to talus, and are held in adduction and inversion by ligaments and
tendons. Although the foot is supinated, the front of the foot is pronated in relation to back of the
foot, causing cavus. In addition, the first metatarsal is more plantar flexed. Congenital talipes
equinovarus is termed ‘syndromic’ when it occurs in association with other features as part of a
genetic syndrome, or it can occur in isolation in which case it may be termed ‘idiopathic’.
Syndromic talipes equinovarus arises in many neurological and neuromuscular disorders, for
example spina bifida or spinal muscular atrophy, but the idiopathic form is by far the most
common.

It is a common developmental disorder of the lower limb, which affects at least 2 per 1000 . It
Despite advances in treatment, disability often persists.

Causes
- Idiophatic
- Genetic
- Poor intra-uterine posture.
Associated factors
- It is associated with joint laxity,
- congenital dislocation of the hip,
- tibial torsion,
- ray anomalies of the foot (oligodactyly),
- absences of some tarsal bones and a history of other foot anomalies in the family
- may affect one or both feet
- Idiopathic congenital talipes equinovarus is 2.0–2.5 times more common in males than females,
regardless of the population studied.

Treatment
1. Non-operative treatments.
- Gentle manipulation and immobilization with bandages,
- Serial careful manipulations and immobilization with strapping or casts underpin
2. Surgery Method to reduce disability, however some degree of disability often persists
despite treatment.

SYNDACTYLY AND POLYDACTYLY (WEBBED FINGERS & TOES)

Syndactyly and polydactyly are both congenital musculoskeletal defects that affect babies' hands
and feet.

Syndactyly

In Syndactyly there is hand deformity where two or more fingers (or toes) are fused together
creating a webbed look.

There are two types of syndactyly:

1. The fingers are only fused by the tissue, or fleshy part.

2. The fingers are fused between the bones.

When fingers are completely fused together it is called complete syndactyly.

Causes of Syndactyly

- Heredity- Syndactyly is often an inherited family trait, meaning parents pass it down to
their children through their genes.
- Failure of parts of the hand (either bone and/or tissue) to separate during fetal
development in utero.
POLYDACTYLY (EXTRA FINGERS OR TOES)

Polydactyly is a condition where the hand (or foot) has additional fingers/toes (most often the
little finger/toe). These two conditions are the most common hand and foot conditions that
pediatric plastic surgeons treat. The extra finger is usually smaller than the other fingers and
abnormally developed. It could be made of skin and soft tissue or could include a bone and joint.

Causes of Polydactyly
- Idiophatic

- genetic, passed down in families

Treatment

- Non-surgicaj Management
- surgery.
- Pediatric plastic surgery

RICKETS
Rickets is a childhood disease where your child’s bones are too soft, causing their bones to warp,
bend and break more easily. It’s typically caused by a lack of vitamin D, but in rare cases, is
caused by an underlying genetic disorder.

Rickets is the softening and weakening of bones in children, usually because of an extreme and
prolonged vitamin D deficiency. Rare inherited problems also can cause rickets. Vitamin D helps
your child's body absorb calcium and phosphorus from food.
signs and symptoms of rickets

 Bowing of leg bones.

 A widening of knees (in children who can walk) or wrists (in infants who can crawl).
 Bone pain.
 Swelling of the ends of ribs, known as rachitic rosary (pronounced “ra-kit-ic”) because
the ends of the ribs look like rosary beads under the skin.
 Pigeon chest (where the breastbone presses outward or upward).
 Growth delays.
 Unusual curving of the spine or shape of the skull.
 Teeth problems, such as cavities.
 Seizures (in severe cases where calcium levels are critically low).
causes of rickets

Nutrition problems or genetics are usually the cause of rickets.

 Nutritional rickets: This is usually caused by not taking in enough vitamin D, which
your body uses to absorb calcium. Some of the causes of this deficiency include:
o Insufficient exposure to sunlight (which helps your body make its own vitamin
D).
o Lack of vitamin D in your child’s diet. This can happen with vegetarian/vegan
diets, lactose intolerance or conditions that limit how much vitamin D your
child’s body can absorb (such as Crohn’s disease, celiac disease, cystic
fibrosis or ulcerative colitis).
o A diet very low in calcium.
 Inherited rickets: Several genetic diseases interfere with how your child’s body absorbs
vitamin D. Other genetic conditions affect how your body handles phosphorus and also
cause rickets. These types of disorders are rare.

Who is at risk?

 Newborns and infants are at the highest risk, especially those who’re breastfeeding (even
more so if the breastfeeding parent isn’t getting enough vitamin D) or who were born
prematurely.
 Children who don’t get enough sunlight outdoors (windows block the sun’s rays that your
body uses to create vitamin D). This is especially true in the wintertime.
 Children who are darker-skinned (it takes longer to absorb enough of the sun’s rays to
create the needed amount of vitamin D when your skin is darker).

DIAGNOSIS AND TESTS

There are several ways to diagnose rickets. If your child’s pediatrician suspects rickets based on
a physical exam or symptoms, they may order one or more of the following tests:

 X-rays.
 Blood testing.
 Urine testing.
 Bone biopsies (very rarely done).
 Genetic testing (for inherited rickets).

MANAGEMENT AND TREATMENT

Yes, most cases of rickets (especially nutritional rickets) are curable when caught early. In most
cases, changes to diet, added vitamin supplements and more sunlight exposure are enough to
cure this disease.

Depending on how severe the case is, your pediatrician may recommend one or more of the
following treatments for rickets:
  Diet changes. This usually involves high doses of vitamin D, from either diet or
supplements. These doses may be given for several months, depending on the severity of
the case and other factors. Your pediatrician may also recommend a standard daily
vitamin D supplement once the higher doses aren’t needed.
 Sunlight. Because your body can naturally make vitamin D when you’ve been exposed
to sunlight, encouragement to get outside and get some sunshine is likely.
 Surgery. Usually, your child’s bones will straighten out on their own. For especially
severe cases, children may need to wear braces to help correct the bending of their bones.
In some cases, surgery may also be an option.

For inherited cases of rickets, there are several treatment options depending on the genetic
disorder in question. Your pediatrician may refer you to see a specialist to help find a treatment
solution.

What are the possible complications that can happen with rickets?

While rickets is a treatable and often curable disease, it’s important to treat it as soon as possible.
When not treated, milder cases of rickets can result in long-term bone that can keep bones from
growing properly. Severe cases that aren’t treated can lead to seizures, heart damage and death.

PREVENTION

 People who are pregnant: Take a vitamin D supplement as guided by your physician.
The standard recommendation is at least 600 IUs of vitamin D daily. However, your
doctor may encourage you to take up to 2,000 IUs daily. They may also advise you to
take a calcium supplement to prevent bone loss later in life.
 Infants: Vitamin D supplement drops are available in most pharmacies. All breastfed
infants should get 400 IUs of vitamin D daily.

For older children:

 Sunlight: Your body makes vitamin D when exposed to sunlight, so it's harder for people
with darker skin to make vitamin D if they spend a lot of time indoors (or for people who
only go outside with sunscreen on).
 Vitamin D-rich foods: Several varieties of fish (especially sockeye salmon and rainbow
trout) are especially rich in vitamin D. Several foods are also “fortified” with vitamin D,
which means that vitamin is added to them. Milk, orange juice and cereals are often
fortified this way.

In the case of inherited diseases that cause rickets, the disease itself isn’t preventable. However,
if you know you or your child has inherited a genetic disorder, early genetic testing may make it
easier to prevent developing rickets as a result.
When should I talk to my doctor or my child’s doctor?

 If your child complains of or shows any of the symptoms listed above, especially
widening of their wrists in children who can crawl, or bowing of their legs in children old
enough to walk.
 If you have a condition or disease that interferes with how your body uses vitamin D,
your doctor or your child’s pediatrician might advise genetic testing if you have one of
the related inherited diseases.

PROGNOSIS

How long will your child have this condition?

Nutritional rickets can be treated in weeks or months, depending on the severity of the case.
Most symptoms like weakness or pain should improve within a few weeks. The vitamin D
deficiency should also improve within six to eight weeks. If your child has any bowing or
bending of bones, this can take months to improve (this can happen on its own but may require
surgery or braces).

With inherited rickets, vitamin D deficiency is a symptom that can be treated, but the disease that
causes it is a life-long condition. Your pediatrician (and specialists, if needed) can help you and
your child learn to manage their condition.

What is the outlook for children with rickets?

For children with nutritional rickets, the outlook is typically good. With treatment, their
condition should resolve in a matter of weeks or months. Most children treated for nutritional
rickets recover completely and grow into healthy adults.

For children with inherited rickets, the prognosis depends on the specific genetic disorder they
have. Still, in many cases, children with this type of rickets can grow into adults who live full,
healthy lives.

Vitamin D promotes the body’s absorption of calcium and phosphorus. Extreme or prolonged
lack of vitamin D makes it difficult to maintain proper calcium and phosphorus levels in bones,
which can cause rickets.
Symptoms include delayed growth, bow legs, weakness and pain in the spine, pelvis and legs.
Treatment may involve adding vitamin D or calcium to the diet, medication or possibly surgery.

Very common
More than 1.5 million cases per year (Nigeria)
Treatable by a medical professional
Requires a medical diagnosis
Lab tests or imaging always required
Medium-term: resolves within months

Rickets is a skeletal disorder that’s caused by a lack of vitamin D, calcium, or phosphate. These
nutrients are important for the development of strong, healthy bones. People with rickets may
have weak and soft bones, stunted growth, and, in severe cases, skeletal deformities.

Vitamin D helps your body absorb calcium and phosphate from your intestines. You can get
vitamin D from various food products, including milk, eggs, and fish. Your body also produces
the vitamin when you’re exposed to sunlight.

A vitamin D deficiency makes it difficult for your body to maintain sufficient levels of calcium
and phosphate. When this occurs, your body produces hormones that cause calcium and
phosphate to be released from your bones. When your bones lack these minerals, they become
weak and soft.

Rickets is most common in children who are between 6 and 36 months old. Children are at the
highest risk of rickets because they’re still growing. Children might not get enough vitamin D if
they live in a region with little sunlight, follow a vegetarian diet, or don’t drink milk products. In
some cases, the condition is hereditary.