SkeletalSystem_Congenital&HereditaryDisease

OSTEOGENESIS IMPERFECTA

• known as Brittle bone disease

• Rare heritable or congenital disesase

OSTEOGENESIS IMPERFECTA CONGENITAL

• present at birth

• This results in limb deformities and dwarfism and may lead to death

OSTEOGENESIS IMPERFECTA TARDA

Fracture may not appear for some years after birth and then generally stop once adulthood is reached

ACHONDROPLASIA

• Most common inherited disorder affecting the skeletal system

• Results in bone deformity and dwarfism

OSTEOPETRSIS

-known as Marble bone disease

-Increased the bone density and defective bone contour, often referred to as skeletal modeling

SYNDACTYLY

Failure of the fingers or toes to separate

POLYDACTYLY

Presence of extra digits

CLUBFOOT (talipes)

Congenital malformation of the foot that prevents normal weight bearing.

DEVELOPMENTAL DYSPLASIA OF THE HIP

Malformation of the acetabulum often results to the head of the femur being displaced superiorly and posteriorly

SCOLIOSIS

Abnormal lateral curvature of the spine

SPINA BIFIDA

-Incomplete closure of the vertebral canal that is particularly common in the lumbosacral area

-Laminae failed to fused posteriorly

-results in varying degrees of paralysis

SPINA BIFIDA OCCULTA

-Much more common

-Generally asymptomatic unless the underlying spinal cord is affected

SPINA BIFIDA CYSTICA

-Spinal wall defect is accompanied by a protrusion of the spinal cord

MENINGCELE

Containing cerebrospinal fluid, protrude through the defect

MENINGOMYELOCELE

-the protrusion contains spinal cord and nerves

-accounts for 90% of cases

SPONDYLOLISTHESIS

Slipping of the body of the vertebra

ANTEROAPONDYLOLISTHESIS

Anterior slipping of the body of the vertebra

RETROSPONDYLOLITHESIS

Posterior slipping of the body of the vertebra

SPONDYLOLYSIS

-A cleft, or breaking down of the body of the vertebra between the superior and inferior articular process.

SPONDYLOSIS

A painful condition of the spine resulting from degeneration of the intervertebral disk and the joint space.

Used to describe osteoarthritis of the spine, but it is also commonly used to describe any manner of degeneration

CRANIOSYNOSTOSIS

Premature or early closure of any of the cranial satures.

SAGITTAL SYNOSTOSIS (scaphocephaly)

• Sagittal suture fuses to early

• The head grows long but its width is restricted

CORONAL SYNOSTOSIS

• Early fusion of one or both of the coronal sutures

• Results in flat forehead and possibly a higher eye socket on the affected side.

• If both sutures fuse, both sides of the face are affected

UNICORONAL SYNOSTOSIS (Anterior Plagiocephaly)

-premature fusion of a single coronal sutures

-results in restricted anterior growth of the skull, involving the top of the skull as well as the cranial base.

-Affected side ear is also more forward

-Face always has a characteristic “C-shaped” deformity or “facial twist”

BICORONAL SYNOTOSIS (Brachycephaly)

-fusion of both coronal sutures Results

-causes restriction of growth of the anterior fossa resulting in a shorter and wider than normal skull.

METOPIC SYNOSTOSIS (Trigonoceohaly)

-Much rarer form of craniosynostosis

-fuses is located between the sagittal suture and the nose

-babies develop a triangular scalp

-premature closure, however, causes more ridge

LAMBDOID SYNOSTOSIS (posterior plagiocephaly)

Most commonly mistaken for posterior positional deformational plagiocephaly

ANENCEPHALY

-Congenital abnormality, a neural tube defect, in which the brain and cranial vault do not form(only the facial bones are formed) with an unknown cause.