PATHOLOGIES and CONDITIONS embryo + organ structure

Volvolus

Intestinal loop rotates on itself

Malrotation

Incomplete/abnormal rotation of intestinal tube

Meckel’s diverticulum

Incomplete obliteration of the vitelline duct

Umbilical hernia

Failure of the musculature to envelop the umbilical ring

Gastroschisis

Defect in formation of the abdominal wall on the side

Hypospadias

Abnormal openings of the urethra

Cleft palate and cleft lips

Defects in formation of the hard palate and upper lip

Treahcer Collins syndrome (first arch syndrome)

Hypoplasia (NON complete development of tissue/organ) of the mandible

Digeorge syndrome (velocardiofacial syndrome)

Problems in the development of the 3rd and 4th pouches

Respiratory distress syndrome (RDS)

Deficiency or absence of surfactant, respiratory issues

Germinal matrix hemorrhage

Hemorrhages due to the brain’s sensitivity

Congenital bronchogenic cyst

Abnormal budding of the respiratory bud (ex. a bronchus that develops in the trachea)

Congenital pulmonary airways malformation (CPAM)

Abnormalities in bronchi branching, fluid filled cyst, can lead to organ displacement

Congenital lobar emphysema

Emphysema=when too much air gets trapped in the lungs, over expansion of one or more pulmonary lobes without destruction of the alveolar walls

Tracheoesophageal fistula (TEF)

Esophageal atresia, presents polyhydramnios, excessive secretions, drooling of saliva, chocking, respiratory distress, inability to feed

Bronchiectasis

Abnormal dilation of the walls of a brunchus

Pulmonary agenesis

Failure of bronchial buds to develop

Pulmonary aplasia

Absence of lung tissue

Pulmonary hypoplasia

Poorly developed bronchial tree, result of a diaphragmatic hernia

Pelvic kidney

One ore both kidneys don’t ascend

Horseshoe kidney

Both kidneys don’t ascend

Bilateral renal agenesis

The fetus develops without both kidneys, leads to oligohydramnios (the baby is either stillborn or dies after a few days)

Autosomic recessive polycystiuc kidney disease (ARPKD)

It gives renal failure in infancy

Autosomic dominant polycystiuc kidney disease (ADPKD)

It gives renal failure in adult life

Nephroblastoma

Kidney tumor caused by remnants of things that should regress

Patent foramen ovalis

The foramen ovalis remains open, too much blood in the lungs, pulmonary hypertension

Ostium secundum defect

Abnormal large opening of the atrial septum at the site of the foramen ovalis and the ostium secundum

Ventricular septal defects

Most frequent congenital defect, development of right ventricular hypertrophy, causes pulmonary hypertension

Tetralogy of Fallot

Defect in the separation of the truncus arteriosum that favors the aorta and causes defects in the membranous portion of the interventricular septum

Dextrocardia

The heart rotates in the opposite way

Duodenal stenosis

Only partial recanalisation

Duodenal atresia

No recanalsation

Double bubble

Duodenal atresia (stenosis)

Placenta accreta

Abnormal adherence of chorionic villi to the myometrium

Placenta increta

The erosion process reaches inside the myometrium

Placenta perverta

The invasion process penetrates completely the myometrium (reaching the perimetrium) touching the rectum or the bladder

Placenta previa

The blastocyst and placenta do not attach and form where they should, they get attached at the level of the opening of the cervix of the uterus (opening=internal uterine os)

Placenta abruption

Premature separation (partial or complete) of the placenta from the uterine wall, can be caused by trauma, causes painful bleeding

Vasa previa

Blood vessels run over or in close proximity to the cervical os

Choriocarcinoma

Carcinoma (malignant tumor) of the trophoblast

Hydatiform mole

Problems in the development of chorionic villi: they are very dilated with grapelike appearance. Causes vaginal bleeding and upon examination there is a mass filled with cysts

Rotavirus and diarrhoea

Damage of enterocytes

Calcification aortic valve disease

The valve loses its ability to open and close in the correct way due to a process of calcification

Conjoined twins

Caused by wrong signaling during the formation of the primitive streak

Urachal cyst

If the allantois does not undergo degeneration and a dilated space remains

Urachal sinus

Small opening at the level of the umbilicus (from a communication with the bladder)

Patent urachus/urachal fistula

Full communication between the urinary bladder and the umbilicus

Exstrophy of the bladder

Congenital defect most likely due to a problem in the migration of the mesenchyme between ectoderm and endoderm. If the mesoderm doesn’t migrate correctly the baby is born with an incomplete abdominal wall and the bladder is exposed and open (you can see the inside of the bladder)

Hypospadia

The urethra isn’t complete in some placed DORSALLY

Epispadia

The urethra isn’t complete in some placed VENTRALLY

Uterus didelphys

Completely detached uterus

Uterus duplex bicorni

The two portions come together but the septum remains

Uterus bicornis unicollis

The two portions converge as to form one neck but the upper part is still separated

Cryptorchidism

Testis remains stuck in certain places. This is a problem in terms of temperature and causes sterility

Indirect inguinal hernia

When abdominal contents (like fat or intestine) protrude into the inguinal canal

Neuroblastoma

Malignant tumor in the PNS

Anencephalia

Caused by polyhydramnios. Causes the lack of development of the brain of the embryo. He will die soon after birth

Amniotic bands

Caused by olygohydramnios. It happens when the amniotic band delaminates in some regions. It may tear up

Potter syndrome

Caused when kidneys are not developed enough. Described as pulmonary hypoplasia (underdeveloped lungs), limb deformities, facial abnormalities

Emphysema

If elastic fibers are damaged there are problems in exhaling and air starts to accumulate in the alveoli and damage the interalveolar septa

Cystic fibrosis

There is an imbalance in the water intake by the cells which results in a more viscous mucous (obstruction of the airways)

Asthma

Chronic inflammatory disorder of the airways characterized by hypersensitivity. Caused by a reduction of the diameter of the bronchioles. During an asthma attack there is a swelling of the mucosa and an increased mucous secretion

Kidney stones or calculi

They usually form in the kidney but then they can migrate to the uterus. If they’re small they get eliminated with urine, but if they are too bug they can lead to an excessive dissension of the ureteric wall

Salpingitis

Inflammation of the uterine tube

Endometriosis

Presence of ectopic endometrial tissue in other sites of the body. Can lead to pelvic pain, dysmenorrhea, infertility

Abnormal uterine/vaginal bleeding (AVB)

Bleeding that occurs between the menstrual periods or a menstrual flow that is lighter or heavier than normal

Adenomyosis

When the endometrium tissue grows into the muscular wall of the uterus. It can cause heavy or prolonged menstrual bleeding

Fibroids or uterine myxomas or uterine leiomyomas or fibromas

Solid tumors made by smooth muscle cells and fibrous tissue

Menopause

Process of folliculogenesis and of hormonal changes stops

Discharge

Women —> abnormal vaginal discharge

Males —> discharge from the penis

Can lead to painful urination, painful sexual intercourses in women, bleeding between menstrual periods, painful testicles

Circumcision and infibulation

Infibulation in females is used for the removal of the labia minora and the inner surface of the labia major

Epididymitis

Inflammation of the epididymis

Varicocele

The pampiniform plexus can dilate due to aging or due to the weakening of the wall. Can cause infertility

Bening prostatic hyperplasia (BPH)

Increase in the dimension of the prostate gland

Oesphageal varices

The venous submucosal plexus drains the left gastric vein. If the draining is inefficient the vessels swell and form varices. It can lead to gastrointestinal bleeding (GIB) and vomit with blood

Reflux esophagitis

Inflammation of the esophagus due to the opening of the LES

Achalasia

Rare motility disorder of the esophagus characterized by loss of enteric neurons

Hirschprung’s disease or aganglionic megacolon

Defect in the migration of neural crest cells in the large intestine. Dilation of the intestine

Biliary atresia

Atresia of the biliary tree

Ectopic pancreas

Abnormal pancreatic tissue in places where it shouldn’t be

Annular pancreas

Rotation which doesn’t take place correctly

Hectopic gastric mucosa

Mature gastric tissue where it shouldn’t be

Pyloric stenosis

Projectile vomiting

Hiatal hernia

If the muscles of the diaphragm are too weak. The esophagus passes through a hiatus (hole) in the diaphragm. The stomach can herniate through the hole and protrude in the thoracic cavity

Pernicious anemia

Deficiency of vitamin B12

Gastric ulcer

Hole in the stomach’s wall. Open sore on an external or internal surface of the body, caused by a break in the skin or mucous membrane which fails to heal

Kartagener syndrome

Situs inversus totalis and immotile cilia over the body