CONGENITAL ANOMALIES

Congenital Clubfoot / Talipes Equinovarus​

-​ are structural anomalies present at birth
-​ can cause physical disability, intellectual and
developmental disability​

-​ About 1 in every 33 U.S. infants ​

has a major congenital anomaly.​

-​ limb deficiencies occur ranging from ​ -​ a congenital birth defect ​

5 to 9.7 per 10,000 live births ​
-​ affects approximately 1 in every 1000 children ​
in a ratio of 3:1 upper to lower extremity
born in the US

Clubfoot is characterized by the following:

• slight shortening of the tibia
• shortening of the fibula
ETIOLOGY • ER of the talus
• MR of the equinus
Genetic problems: • Medial subluxation of the cuboid over the calcaneal head
-​ 1 or more genes might have a change or mutation • Adducted and supinated forefoot
-​ Ex: Fragile X syndrome • Atrophied lower extremity muscles
• Contractures in the foot and ankle
• Shortening of foot and ankle ligaments
Chromosomal problems:
-​ a chromosome or part of a chromosome might be missing Medical intervention:
-​ Ex: ​ -​ Casting and Surgery ​
Turner syndrome - female is missing an X chromosome​ to realign the foot and ankle.​
Klinefelter syndrome & Down syndrome ​
- having an extra chromosome Surgery
-​ usually is performed when the child is around ​
Infections: 6 months of age.
-​ Women who get certain infections during pregnancy are at -​ used to be the main treatment for clubfoot,
higher risk for having a child with birth defects. but orthopedic surgeons now prefer the ​
Ponseti Method​
Exposure to medications, chemicals, or other agents during
pregnancy. Ponseti Method:
-​ medication - thalidomide 2 Phases:
-​ rubella (German measles) 1.​ Casting Phase
-​ toxic chemicals - hydrocarbons -​ which gradually moves ​
the foot to the correct position
-​ usually starts when a baby is a week
or 2yo.
DIAGNOSIS -​ worn in a series of 5 to 7 casts over a
few wks or months.
Newborn screening -​ when the foot is in its final, correct
-​ a process that tests infants' blood ​ position, the baby is fitted with a brace.
for different health conditions 2.​ Bracing Phase
-​ does not diagnose any specific conditions ​ -​ which makes sure ​
but detects that a problem may exist. it stays there

Prenatal Screening Without medical intervention can be:

-​ blood and urine tests -​ very painful
-​ to check for diabetes, signs of infection, -​ difficulty with ambulation
preeclampsia
The exact cause of clubfoot is UNKNOWN.
Amniocentesis
-​ usually performed to determine ​ Impact on Performance Impact on Client Factors ​
whether a fetus has a genetic disorder. Skills (Body Functions & Structures)
• Motor skills • Neuromusculoskeletal and
• Mobility movement-related functions
• Coordination • Functions of joints and bones
• Strength and effort • Muscle functions
• Energy • Movement functions

INTERVENTIONS
• Support for the family in developing habits and routines
related to medical interventions, including physical therapy ​
• Interventions to support play
• Interventions to support motor development
• Accommodations and modifications ​
to the task and the environment
Congenital Heart Defects

-​ a group of conditions (structural impairment of the heart)

present in newborns at birth.​

-​ approximately 8 of every 1000 infants in the US

Common congenital heart defects include the following:

• Aortic stenosis:
-​ the opening of the aortic valve is stiff and narrow and
interferes with efficient pumping of the blood. ​

• Atrial septal defect:

-​ a hole in the wall that divides the two atria. ​

• Atrioventricular canal defect:

-​ rather than two valves controlling blood flow into the heart,
there is only one. In addition, the central area of the heart is
malformed. ​

• Coarctation of the aorta:

-​ a portion of the aorta is narrowed, which affects blood flow
to the body. ​

• Hypoplastic left heart syndrome: Congenital Obstructive Hydrocephalus

-​ the left side of the heart is underdeveloped.​
-​ a result of an obstruction of the flow of CSF
• Patent ductus arteriosus: -​ caused by malformation of the brain structures,
-​ the ductus arteriosus blood vessel does not close on its own toxoplasmosis, and Bickers-Adams syndrome.
after birth.
-​ approximately 3 of every 1000 infants
• Tetralogy of Fallot:
-​ includes pulmonary stenosis, ventricular hypertrophy, Signs and Symptoms:
ventricular septal defect, and flow from both the right and -​ headaches
left ventricles into the aorta. -​ neck pain
-​ blurred or double vision
• Total anomalous pulmonary venous connection: -​ may vomit or appear drowsy.
-​ pulmonary vessels that are improperly joined to the left -​ may appear irritable
atrium. -​ may be less active than usual
-​ decreased appetite
• Transposition of the great arteries: physical signs:
-​ the pulmonary artery and the aorta are switched, resulting in -​ enlarged head
a decrease in oxygenated blood. -​ disjunction of sutures
-​ tense fontanelle
• Tricuspid atresia: -​ increased tone in the lower extremities
-​ the tricuspid valve is absent, and in its place is a membrane -​ unsteady gait
that does not allow blood flow. -​ failure to gaze upward
-​ sun-setting sign
• Truncus arteriosus:
-​ the pulmonary artery and aorta do not split, resulting in one
common blood vessel.
Medical Intervention:
• Ventricular septal defect: -​ Surgical Application of a Shunt
-​ a hole in the wall between the two ventricles. -​ to reroute CSF
-​ lessen pressure in the skull against the brain
​
Signs and symptoms include: INTERVENTIONS ​
●​ bluish skin or lips • Support for participation in areas of occupation ​
●​ difficulty breathing • Support for the development of motor and process skills ​
●​ poor appetite, sweating • Task and environmental accommodations and modifications ​
●​ decreased pulse strength.​ • Family and caregiver training and education

Impact on Impact on Performance Patterns: ​

Occupational Role Deprivation
Performance
Impact on Performance Skills: ​
• ADL ​ frequent hospitalizations ​
• IADL ​ may delay the acquisition of ​
• Education ​ motor skills in some cases. ​
• Work ​ ​
• Leisure ​ Impact on Client Factors ​
• Social (Body Functions and Structures)​
activities • Cardiovascular system functions

INTERVENTIONS:
• Support for participation in all areas of occupation
• Teaching of energy conservation techniques
• Increasing of endurance through functional activities
• Child and family education about condition
CONGENITAL LIMB DEFICIENCIES
-​ resulting from incomplete limb bud development​

Etiology:
1st trimester
-​ essential for limb formation
Limb formation
-​ begins at 26 days of gestation
-​ continues through 8 weeks
-​ progressing in a proximal-to-distal order.
-​ this complex process is regulated by specific genes,
-​ some of which are linked to syndromes ​
and abnormalities.
Over 80% of heritable limb deficiencies are associated with
anomalies beyond the musculoskeletal system.

Transverse Limb Deficiencies Longitudinal Limb Deficiencies

Definition - a limb fails to develop beyond a certain point Definition - partial or complete absence of a bone ​
- resembling an amputation or structure along the length of a limb
- with some elements still present
Types Terminal Deficiency:
-​ limb ends entirely at a certain level ​ Types Radial Deficiency:
(mid-forearm, below the knee)​ -​ affects the radius
-​ leading to radial club hand​
Intercalary Deficiency:
-​ a segment within the limb is missing,​ Ulnar Deficiency:
but proximal & distal parts may be present. -​ affects the ulna
-​ often with finger abnormalities​
Causes Vascular Disruption
-​ amniotic band syndrome, Poland syndrome Tibial Deficiency:
​ -​ partial or complete absence of the tibia
Genetic Factors -​ leading to leg shortening
-​ though rare, ​
some cases have hereditary links Fibular Deficiency:
-​ missing or shortened fibula
Environmental Influences -​ causing limb length discrepancy
-​ exposure to teratogens, infections, or
trauma during early pregnancy Causes Genetic Factors:
-​ often linked to syndromes ​
Associated Poland Syndrome: (Holt-Oram, TAR syndrome)
Syndromes
-​ affects chest muscles & ​
upper limb formation​ Vascular Disruption:
-​ interruptions in blood supply ​
Moebius Syndrome: during limb development
-​ involves craniofacial abnormalities & ​
limb deficiencies​ Environmental Influences:
-​ teratogens, infections, or maternal conditions
Adams-Oliver Syndrome:
-​ characterized by limb defects & ​ Associated Holt-Oram Syndrome:
Syndromes
scalp abnormalities -​ radial deficiency with heart defects

Diagnosis Prenatal: TAR Syndrome:

-​ some cases detected via ultrasound​ -​ thrombocytopenia with absent radius

Postnatal: Fanconi Anemia:

-​ X-rays, clinical evaluation, & genetic testing ​ -​ bone marrow failure with radial abnormalities
help determine cause & extent
Diagnosis Prenatal:
Treatment & Prosthetics: -​ can be detected via ultrasound in some cases
Management
-​ custom-fit devices to enhance ​
mobility & function. Postnatal:
​ -​ clinical examination, X-rays, & genetic testing
Physical & Occupational Therapy:
-​ to improve adaptation & daily function Treatment & Orthopedic Bracing:
Management
-​ to support mobility and function
Surgical Interventions:
-​ rare but considered in select cases Surgical Correction:
-​ bone lengthening, soft tissue reconstruction, or
joint realignment

Prosthetics & Therapy:

-​ helps with adaptation & ​
functional improvement
 Longitudinal Limb Transverse Limb
Deficiencies Deficiencies

Definition partial or complete ​ limb fails to develop

absence of specific bone ​ beyond a certain point​
along the long axis ​ ​
of the limb resembling an amputation

Types Radial Deficiency Terminal Deficiency:

Ulnar Deficiency - limb stops ​
Tibial Deficiency at a specific level
Fibular Deficiency (midFA, below knee)

Intercalary Deficiency:
- middle segment missing, ​
proximal & distal parts​
may be present

Pattern of affects only certain bones ​ limb is completely absent

Absence
along the limb's length ​ beyond a certain level
​
some parts may still be
normal

Common - Genetic mutations ​ Vascular disruption

Causes
(Holt-Oram, TAR syndrome) -​ amniotic band
- Vascular disruptions​ syndrome​
- Teratogenic exposure
Environmental or ​
unknown causes

Associated Holt-Oram Syndrome Poland Syndrome

Symptoms
-​ radial deficiency + ​ -​ missing ​
heart defects chest muscle + ​
​ hand defects
TAR Syndrome
-​ thrombocytopenia Moebius Syndrome
+​ -​ craniofacial
absent radius abnormalities +
​ limb defects
Fanconi Anemia
-​ radial defects + ​ Adams-Oliver Syndrome
bone marrow -​ limb & scalp
failure defects

Diagnosis Prenatal ultrasound Prenatal ultrasound

-​ detects ​ -​ possible detection ​
some cases ​
​ Clinical examination Children with congenital limb deficiencies
Postnatal X Rays & ​ -​ after birth
-​ DO experience phantom sensation, ​
genetic testing
though it is NOT PAINFUL
Treatment Orthopedic bracing Prosthetic fitting -​ less likely to experience phantom sensations ​
Options than those with acquired amputations​
​ ​
Surgery PT & OT​
-​ bone lengthening, ​ ​ Phantom sensation
joint correction Surgery in select cases -​ an individual’ s awareness of the missing
-​ rarely unpleasant
Prosthetics & PT
-​ not painful, no treatment is necessary
-​ is explainable if we recognize the brain as a generator
of sensory information​

Phantom limb pain

-​ rarely occurs in children under 10 or during growth
-​ is reported in teenagers

Types of Lower Limb Deficiencies

Transverse lower limb is absent beyond a certain level

Deficiency -​ above-knee or below-knee ​
amputation-like appearance

Longitudinal - specific bones are partially or ​

Deficiency completely missing along the limb
- some parts may be normal
Common Longitudinal Deficiencies: ​

1. Tibial Hemimelia
-​ partial or complete absence of the tibia
-​ causing leg shortening
​
2. Fibular Hemimelia
-​ absence or underdevelopment of the fibula
-​ often leading to limb length discrepancy

3. Proximal Femoral Focal Deficiency (PFFD)

-​ affects the upper femur
-​ leading to hip and thigh abnormalities

4. Congenital Femoral Deficiency (CFD)

-​ a range of femoral abnormalities
-​ from shortening to complete absence

Limb Transverse Deficiencies

Anomalies -​ limb ends at a certain level
​
Longitudinal Deficiencies
-​ radial or fibular deficiency

Polydactyly
-​ extra fingers/toes
​
Syndactyly
-​ fused fingers/toes

Craniofacial Cleft Lip & Palate

Anomalies -​ split in upper lip or roof of mouth
​
Microcephaly
-​ abnormally small head

Craniosynostosis
-​ early skull bone fusion

Cardiac Congenital Heart Defects (CHD)

Anomalies -​ Tetralogy of Fallot, ASD, VSD

Hypoplastic Left Heart Syndrome (HLHS)

-​ underdeveloped left side of the heart

Neural Tube Spina Bifida

Defects -​ spinal cord doesn't close properly

Anencephaly
-​ severe brain & skull underdevelopment

Genitourinary Hypospadias
Anomalies -​ urethra opening on the ​
underside of the penis​

Renal Agenesis
-​ missing one or both kidneys

Syndromic Down Syndrome

Anomalies -​ extra chromosome 21
-​ causing intellectual & physical
disabilities​

Turner Syndrome
-​ affects females, with missing or altered
X chromosome

Marfan Syndrome
-​ connective tissue disorder ​
affecting the heart, eyes, and bones