Ashok improvement plan

1. ASHOK K
HUMAN GENETICS
GENETIC DISORDERS IN
SKELETON AND SKIN

2. GENETIC DISOREDER IN SKELETON
• Skeletal dysplasia is a category of rare genetic disorders that cause
abnormal development of a baby's bones, joints, and cartilage. While
skeletal dysplasia affects different parts of the body in different
children, the areas most often affected include the legs and arms,
ribcage, skull, and spine.
•

3. TYPES OF SKELETON DISORDERS
• Achondroplasia is the most common type of skeletal dysplasia. Possible complications
include spinal stenosis, shortened limbs, short fingers, prominent forehead, compression
of the lower spine.
• Osteogenesis imperfecta is also known as brittle bone disease. Children with
osteogenesis imperfecta have fragile bones that fracture easily. They may also have short
stature, bone deformity, osteoporosis, and a soft, thin skull.
• Thanatophoric dysplasia: children may have short limbs, bowed legs, small chest, spine
problems, prominent forehead.
• Hypochondroplasia: children may have short limbs, including short hands and feet.
• Campomelic dysplasia: children may have bowlegs, short limbs, clubfeet, missing or
fused ribs, ambiguous genitals, flat facial features, prominent forehead.
• Achnodrogenesis: children may have short limbs, spine not fully formed, small chest.
•

4. SYMPTOMS AND CAUSES
• In some children, symptoms of skeletal dysplasia may be visible at birth. In others, the symptoms
may appear later, as they grow and develop. Further, because there are so many types and levels
of severity, the symptoms of skeletal dysplasia can affect different parts of the body.
• Skeletal dysplasia symptoms in the arms and legs
• Skeletal dysplasia often causes irregular growth in a child’s arms and legs.
• short arms and legs compared to the rest of their body
• stiff or immobile joints, including the fingers, wrists, feet, ankles, and knees
• hips and other joints that become easily dislocated
• one leg shorter than the other (leg-length discrepancy)
• legs that bow outward (bowlegs) or inward (knock
•

5. • Skeletal dysplasia symptoms in the spine and torso
• Skeletal dysplasia can cause problems in the development of the spine, neck, and
chest. Complications may include:
• small chest cavity and missing or fused ribs (thoracic insufficiency syndrome),
which can make it hard for a child to breathe
• extra bone growth in the spinal column that presses against the spinal cord
(spinal stenosis)
• spinal curvatures that grow too large (kyphosis, lordosis), or curve in the wrong
direction (scoliosis)
• cervical spine instability, inability of the neck to support the weight of the head
•

6. • Skeletal dysplasia symptoms in other parts of the body
• Skeletal dysplasia can interfere with the healthy development of other
areas of the body. These symptoms can include:
• large head compared to the rest of the body
• prominent forehead
• underdeveloped facial features
• fluid buildup around the brain (hydrocephalus)
• frequent ear infections, possibly leading to hearing loss

7. • What causes skeletal dysplasia?
• Skeletal dysplasia is a genetic disorder. Some children inherit the
condition from their parents. In other cases, a baby’s genes mutate
(change) during pregnancy for no known reason, leading to skeletal
dysplasia.
•

8. • How is skeletal dysplasia diagnosed?
• Skeletal dysplasia is often diagnosed during pregnancy by prenatal ultrasound. In general,
the earlier skeletal dysplasia becomes detectable on an ultrasound, the more severe it
tends to be. If a baby has a family history of skeletal dysplasia, genetic testing can detect
the condition.
• If not detected before birth, you or your child’s pediatrician may notice signs of skeletal
dysplasia during your baby’s first year. In many cases, one of the first signs is that the
baby’s head grows much larger than the rest of their body. Your child’s doctor may order
one or more imaging tests to confirm the diagnosis and determine its severity:
• x-ray for images of your child’s bone structure
• computed tomography (CT) scan for more detailed images of your child’s bones and the
surrounding tissues
• magnetic resonance imaging (MRI) for a detailed image of your child’s bones and the
surrounding tissues. MRIs take longer but provide more detail than CT scans.

9. • How is skeletal dysplasia treated?
• There is no cure for skeletal dysplasia. Your child’s treatment will depend on what
type they have, its severity, and what parts of their body are affected.
• If your baby has mild skeletal dysplasia, their doctor may recommend giving them
time to develop before starting medical treatment.
• Some treatments focus on making your baby more comfortable and reducing the
painful symptoms of skeletal dysplasia.
• Some treatments use medicine to stimulate growth or change the way your
child’s bones are growing.
• Some treatments involve surgery to correct bone growth.
•

10. GENETIC DISORDER IN SKIN
• Skin diseases affect the skin and its projections and some of them can
be inherited from your genes. Such diseases are mainly caused by
single-gene mutations and result in skin cancer, acne, lupus, psoriasis,
hives, warts and carbuncles.
•

11. VARIES TYPES OF SKIN DIEASES
• Albinism
• Ectodermal dysplasias
• Ehlers-Danlos syndrome
• Ichthyoses
• Incontinentia pigmenti
• Tuberous sclerosis
• Premature aging syndromes

12. ALBINISM
• Albinism is an inherited condition that leads to someone having very
light skin, hair, and eyes. It happens because they have less melanin
than usual in their body. Melanin gives skin, hair, and eyes their color.
Except for vision problems, most people with albinism are just as
healthy as anyone else.
•

14. ECTODERMAL DYSPLASIAS
• Ectodermal dysplasias (ED) are disorders that affect the skin, sweat
glands, hair, teeth, and nails. Some individuals with ED may also have
cleft lip and/or palate. ED can additionally cause problems with the
immune system as well as hearing and vision.
•

16. DIAGNOSIS
• Most of the time, genetic disorders are diagnosed through a specific
test, which can include examining chromosomes or DNA (the tiny
proteins that make up genes), or testing the blood for certain
enzymes that may be abnormal. Studying enzymes is called
biochemical genetic testing.
•

17. TREATMENT
• Many genetic disorders result from gene changes that are present in
essentially every cell in the body. As a result, these disorders often
affect many body systems, and most cannot be cured. However,
approaches may be available to treat or manage some of the
associated signs and symptoms.
•