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 filed 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

Bronchietasis

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 genesis

Leads to oligohydramnions (the baby is either stillborn or dies after a few days)

Autosomic recessive polycystiuc kidney disease (ARPKD)

Quick, gives renal failure in infancy

Autosomic dominant polycystiuc kidney disease (ADPKD)

Sloq rte, renal failure in adult life

Nephroblastoma

Kidney tumor caused by remnants of things that should regress

Patent foramen ovalis

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

Ostium secundum defect

Excessive reabsorption of the septum secundum so that it does not cover the foramen 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 trunks arteriosum that favors the aorta and causes defects in the membranous portion of the interventricular septum

Dxtrocardia

The heart rotates in the opposite way

Duodenal stenosis

Only partial recanalisation

Duodenal artresia

No recanalsation

Double bubble

Duodenal 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, 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

Cryptotorchidism

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