Malformation

Disruption

Deformation

Malformation

- definition

- examples

Definintion:

- morphological defect of an organ, part of an organ, or larger region of the body resulting from an intrinsically abnormal development process

Examples:

- Anencephaly

- omphalocele

- gastroschisis

- conjoined twins

Disruption

- definintion

- examples

Definition:

- morphological defect in an organ, part of an organ, or larger region of the body resulting from the extrinsic breakdown of, or interference with an originally normal developmental process

Examples:

- ADAM complex

  ~amniotic deformities, adhesions, mutations

  ~secondary to amniotic bands which if present early can disrupt development leading to absence of body parts

Deformation

-definition

-examples

Definition:

- abnormal form, shape, or position of a part of the body caused by mechanical forces, usually compression

  ~can be extrinsic or intrinsic (hydrocephalus)

Examples:

- flexion deformities

- circumvallate placenta

Sequence

Syndrome

Association

Sequence

- definition

- examples

Definition:

-pattern of multiple defects derived from a single anomaly

Examples:

-Oligohydraminos- sequence is low amniotic fluid

Syndrome

-definition

-examples

Definition:

- a recognized pattern of multiple anomalies know or thought to be pathogenetically related and not known to represent a sequence

Examples:

- Down syndrome (Trisomy 21)

- Edward Syndrome (Trisomy 18)

- Patau syndrome (trisomy 13)

Association

- definition

- example

Definition:

- a nonrandom occurrence in 2 or more individuals of multiple anomalies and not known to be a sequence or syndrome

Example:

- VACTERL Association- need 3+ to be indicative of disease 

  ~Vertebral defects, Anal atresia, cardiac anomalies, Tracheo-esophageal fistula, esophageal atresia, renal anomalies, limb anomalies

Autosomal recessive

Autosomal dominant

X-linked recessive

Autosomal recessive diseases

- general diseases

    ~specific diseases and their cause

most common type of inherited disorders

Examples:

-autosomal recessive

   ~Cystic fibrosis- problem with choloride channel

-lysosomal storage diseases

    ~Tay Sachs - deficiency in hexosaminidase A

    ~Niemann Pick disease- deficiency in sphingomyelinase 

    ~Gaucher disease- deficiency in glucocerebrosidase

-glycogen storage diseases

    ~Type 1: Von Gierke disease- affects liver and kidney

    ~Type V: McArdle disease - affects skeletal muscle

    ~Type II: Pompe disease- affects heart → systemic effects; lysosomal enzyme defect

Lysosomal storage disease

Hexosaminidase A deficiency

Lysosomal storage disease

Sphingomyelinase deficiency

Lysosomal storage disease

Glucocerebrosidase deficiency

Type 1: Von Gierke disease- affects liver and kidney

Type 2: Pompe disease- affects heart; lysosomal enzyme defect

Type 5: McArdle disease- affects skeletal muscle