Arthrogryposis (Ectodermal Dysplasia other Anomalies)

Definition

Definition of Arthrogryposis (Ectodermal Dysplasia other Anomalies)
Ectodermal dysplasia with arthrogryposis is an uncommon condition. We describe two daughters of a distant consanguineous couple with oligodentia, enamel abnormalities, camptodactyly, longitudinally broken nails, growth retardation, joint contractures with amyotrophy, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching, kypho-scoliosis, mild facial dysmorphia and microcephaly. The condition is probably due to an autosomal recessive gene, the parents being gypsies of the same ancestral origin.

Symptoms

Symptoms of Arthrogryposis (Ectodermal Dysplasia other Anomalies)

1. Curved fifth finger
2. Reduced body hair
3. Dry skin
4. Fine hair
5. Insulin-dependent diabetes

Causes

Causes of Arthrogryposis (Ectodermal Dysplasia other Anomalies)
The cause is unknown, although several mechanisms have been suggested. This includes hyperthermia of the fetus, prenatal virus, fetal vascular compromise, septum of the uterus, decreased amniotic fluid, muscle and connective tissue developmental abnormalities.In general, the causes can be classified into extrinsic and intrinsic factors.

Diagnosis

Diagnosis of Arthrogryposis (Ectodermal Dysplasia other Anomalies)
To date, no prenatal diagnostic tools are available to test for the condition. Diagnosis is only used to rule out other causes. This is done by undertaking muscle biopsies, blood tests and general clinical findings rule out other disorders and provides evidence for AMC.

Treatment

Treatment of Arthrogryposis (Ectodermal Dysplasia other Anomalies)
While there is no reversal of this condition, individual quality of life can be greatly improved. As each person will respond differently, and will have different needs, a combination of therapies is beneficial. Physical therapy including stretching, strengthening, and mobility training are often provided to improve flexion and range of motion to increase mobility. Occupational therapy (may also include casting, splinting of affected joints) can include training in ADL and fine motor skills as well as addressing psychosocial and emotional implications of living with a disability. Since there is a variety of mobility impairments, individually tailored orthopaedic correction is often beneficial. Orthopedic surgery, which include osteotomy or external Ilizarov fixator, may be elected to correct severely affected joints and limbs and symptoms such as clubfoot, hernia repair and correction of unilateral hip dislocation, in cases where these surgeries improve quality of life. However, in most cases, the contractures would recur despite surgery. A surgery called Tendon Release is usually done to stretch out the tendon the makes most patients walk on their toes.

Prognosis

Prognosis of Arthrogryposis (Ectodermal Dysplasia other Anomalies)
Consult with your doctor.

Prevention

Prevention of Arthrogryposis (Ectodermal Dysplasia other Anomalies)
Consult with your doctor.