A uterine septum is a form of a congenital malformation where the uterine cavity is partitioned by a longitudinal septum; the outside of the uterus has a normal typical shape. The wedge-like partition may involve only the superior part of the cavity resulting in an "incomplete septum" or a "subseptate uterus", or less frequently the total length of the cavity ("complete septum") and the cervix resulting in a double cervix. The septation may also continue caudally into the vagina resulting in a "double vagina".

Molar pregnancies usually present with painless vaginal bleeding in the fourth to fifth month of pregnancy. The uterus may be larger than expected, or the ovaries may be enlarged. There may also be more vomiting than would be expected (hyperemesis). Sometimes there is an increase in blood pressure along with protein in the urine. Blood tests will show very high levels of human chorionic gonadotropin (hCG).

Invasive hydatidiform mole, also known as invasive mole and chorioadenoma destruens is a type of neoplasia that grows into the muscular wall of the uterus. It is formed after conception (fertilization of an egg by a sperm). It may spread to other parts of the body, such as the vagina, vulva, and lung.

Molar pregnancy is an abnormal form of pregnancy in which a non-viable fertilized egg implants in the uterus and will fail to come to term.

A molar pregnancy is a gestational trophoblastic disease which grows into a mass in the uterus that has swollen chorionic villi. These villi grow in clusters that resemble grapes. A molar pregnancy can develop when a fertilized egg does not contain an original maternal nucleus. The products of conception may or may not contain fetal tissue. It is characterized by the presence of a hydatidiform mole (or hydatid mole, mola hydatidosa). Molar pregnancies are categorized as partial moles or complete moles, with the word "mole" being used to denote simply a clump of growing tissue, or a "growth".

A complete mole is caused by a single sperm (incidence is about 90%) or two (incidence is about 10%) sperms combining with an egg which has lost its DNA (in the first case the sperm then reduplicates forming a "complete" 46 chromosome set). The genotype is typically 46,XX (diploid) due to subsequent mitosis of the fertilizing sperm, but can also be 46,XY (diploid). 46,YY (diploid) is not observed. In contrast, a partial mole occurs when a haploid egg is fertilized by two sperm or by one sperm which reduplicates itself yielding the genotypes of 69,XXY (triploid) or 92,XXXY (tetraploid). Complete hydatidiform moles have 2 - 4% risk of developing into choriocarcinoma in Western countries and 10 - 15% in Eastern countries and overall, also a 15% chance of becoming an invasive mole. Incomplete moles can become invasive (<5% risk) but are not associated with choriocarcinoma. Complete hydatidiform moles account for 50% of all cases of choriocarcinoma.

Circumvallate placenta is a placental morphological abnormalitiy, a subtype of placenta extrachorialis in which the fetal membranes (chorion and amnion) "double back" on the fetal side around the edge of the placenta. After delivery, a circumvallate placenta has a thick ring of membranes on its fetal surface.

The fetal surface is divided into a central depressed zone surrounded by a thickened white ring which is incomplete the ring is situated at varying distance from the margin of the placenta. The ring is composed of a double fold of amnion and chorion with degenerated decidua vera and fibrin in between. Vessels radiate from the cord insertion as far as the ring and then disappear from the view.

Complete circumvallate placenta occurs in approximately 1% of pregnancies. It is diagnosed prenatally by medical ultrasonography, although one 1997 study of prenatal ultrasounds found that "of the normal placentas, 35% were graded as probably or definitely circumvallate by at least one sonologist," and "all sonologists misgraded the case of complete circumvallation as normal." The condition is associated with perinatal complications such as placental abruption, oligohydramnios, abnormal cardiotocography, preterm birth, and miscarriage.

A placental disease is any disease, disorder, or pathology of the placenta. The article also covers placentation abnormalities, which is often used synonymously for placental disease.

The condition may not be known to the affected individual and not result in any reproductive problems; thus normal pregnancies may occur. However, it is associated with a higher risk for miscarriage, premature birth, and malpresentation. According to the classical study by Buttram there is a 60% risk of a spontaneous abortion, this being more common in the second than in the first trimester. However, there is no agreement on this number and other studies show a lower risk. Woelfer found that the miscarriage risk is more pronounced in the first trimester.

The condition is also associated with abnormalities of the renal system. Further, skeletal abnormalities have been linked to the condition.

Breus' mole (Ova tuberculosa, massive mole) is a massive, subchorionic, tuberous hematoma, formed out of maternal blood in the uterus in pregnancy. It was first described by Karl Breus in 1892.

Gestational trophoblastic disease (GTD) is a term used for a group of pregnancy-related tumours. These tumours are rare, and they appear when cells in the womb start to proliferate uncontrollably. The cells that form gestational trophoblastic tumours are called trophoblasts and come from tissue that grows to form the placenta during pregnancy.

There are several different types of GTD. Hydatidiform moles are benign in most cases, but sometimes may develop into invasive moles, or, in rare cases, into choriocarcinoma, which is likely to spread quickly, but which is very sensitive to chemotherapy, and has a very good prognosis. Gestational trophoblasts are of particular interest to cell biologists because, like cancer, these cells invade tissue (the uterus), but unlike cancer, they sometimes "know" when to stop.

GTD can simulate pregnancy, because the uterus may contain fetal tissue, albeit abnormal. This tissue may grow at the same rate as a normal pregnancy, and produces chorionic gonadotropin, a hormone which is measured to monitor fetal well-being.

While GTD overwhelmingly affects women of child-bearing age, it may rarely occur in postmenopausal women.

Trophoblastic neoplasms derive from trophoblastic tissue. Examples include:

- Choriocarcinoma

- Hydatidiform mole

Gestational trophoblastic disease (GTD) may also be called gestational trophoblastic tumour (GTT).

Hydatidiform mole (one type of GTD) may also be called molar pregnancy.

Persistent disease; persistent GTD: If there is any evidence of persistence of GTD, usually defined as persistent elevation of beta hCG (see «Diagnosis» below), the condition may also be referred to as gestational trophoblastic neoplasia (GTN).

A transverse septum can form during embryogenesis when the Müllerian ducts fuse improperly to the urogenital sinus. A complete transverse septum will block menstrual flow and is a cause of primary amenorrhea. The accumulation of menstrual debris behind the septum is termed cryptomenorrhea. Some transverse septa are incomplete and may lead to dyspareunia or obstruction in labour. A surgical incision will relieve the situation.

A longitudinal vaginal septum develops during embryogenesis when there is an incomplete fusion of the lower parts of the two Müllerian ducts. As a result, there is a "double vagina". There may be associated duplications of the more cranial parts of the Müllerian derivatives, a double cervix, and either a uterine septum or uterus didelphys (double uterus).

The person with a longitudinal vaginal septum may be asymptomatic and not aware of the condition. If dyspareunia is a problem a simple resection of the septum could be performed.

Clinically, Breus' mole may be asymptomatic, or may present with signs of decreased blood flow to the foetus such as growth restriction and foetal distress. Postnatally, Breus' mole is found in placental examination following live birth or spontaneous abortion. Breus' mole is diagnosed antinatally by ultrasound, where a thick multilobulated hematoma can be seen beneath the chorion. Occasionally, subchorial thrombohematoma may later become intraplacental, making its diagnosis difficult. The mole may be echogenic or hypoechoic depending upon the amount of fresh blood present in it. Breus' mole should be differentiated from vesicular mole and missed abortion in an ultrasound examination.

Midline cervical clefts are a rare congenital anomaly resulting from incomplete fusion during embryogenesis of the first and second branchial arches in the ventral midline of the neck. The condition presents as a midline cutaneous defect of the anterior neck with a skin projection or sinus, or as a subcutaneous erythematous fibrous cord. Surgical excision is the preferred treatment.

Placental site trophoblastic tumor is a form of gestational trophoblastic disease, which is thought to arise from intermediate trophoblast.

It may secrete human placental lactogen (human chorionic somatomammotropin), and result in a false-positive pregnancy test.

Placental site trophoblastic tumor is a monophasic neoplasm of the implantation site intermediate trophoblast, and usually a benign lesion, which comprises less than 2% of all gestational trophoblastic proliferations. Preceding conditions include molar pregnancy (5%). Compared to choriocarcinoma or invasive mole, hemorrhage is less conspicuous and serum β-HCG level is low, making early diagnosis difficult.

Immunohistochemistry: Often stains with hPL, keratin, Mel-CAM, EGFR.

Prognosis: 10–20% of cases metastase leading to death.

Treatment: Because chemotherapy is ineffective; the patient should undergo hysterectomy.

Hypospadias presents as an abnormal location for the end of the urethra which is typically found on the distal end of the penis. It is generally diagnosed at birth from visual confirmation of the hallmark features. As well as an unusual location of the urethra, the prepuce (foreskin) is typically incomplete as well. The abnormal ‘hooded’ prepuce is what often draws attention to the condition but can occur separately to hypospadias.

In Cryptorchidism a diagnosis is made from a physical examination which is performed when the baby is lacking one or both testes in the dependant portion of the scrotal sac. 70% of cryptorchid testes can be felt and are unable to be pulled into the scrotum or retreats quickly after being pulled into a higher position. In 30% of cases the testes cannot be felt indicating an intra-abdominal location. The risk factors for Cryptorchidism are:

- A family history of the condition

- Low birth weight

- Prematurity

Cryptophthalmos is a rare congenital anomaly in which the skin is continuous over the eyeball with absence of eyelids. It is classified into three types: complete, incomplete and abortive. Failure of eyelid separation can be associated with maldevelopment of the underlying cornea and microphthalmia. Cryptophthalmos usually occurs on both sides and occurs in association with other multiple malformations collectively referred to as Fraser syndrome.

In teratology, proboscis is a blind-ended, tubelike structure, commonly located in the midface.

Proboscis formation are classified in four general types: holoprosencephalic proboscis, lateral nasal proboscis, supernumerary proboscis, and disruptive proboscis.

- Holoprosencephalic proboscis is found in holoprosencephaly. In cyclopia or ethmocephaly, proboscis is an abnormally formed nose. In cyclopia, a single median eye is associated with arrhinia (absence of the nose) and usually with proboscis formation above the eye. In ethmocephaly, two separate hypoteloric eyes are associated with arrhinia and supraocular proboscis formation. In cebocephaly, no proboscis formation occurs, but a single-nostril nose is present.

- Lateral nasal proboscis (proboscis lateralis) is a tubular proboscis-like structure and represents incomplete formation of one side of the nose; it is found instead of a nostril. The olfactory bulb is usually rudimentary on the involved side. The lacrimal duct (tear duct), nasal bone, nasal cavity, vomer, maxillary sinus, cribriform plate, and ethmoid cells are often missing on the involved side. Ocular hypertelorism may be present. The proboscis lateralis is a rare nasal anomaly.

- Supernumerary proboscis (Accessory proboscis) is found when both nostrils are formed and a proboscis occurs additionally. Accessory proboscis arise from a supernumerary olfactory placode.

- Disruptive proboscis occur if an early embryonic hamartoneoplastic lesion arises in the primitive prosencephalon.

Additional findings that may be present in HFGS according to the latest research are:

- Limited metacarpophalangeal flexion of the thumb or limited ability to oppose the thumb and fifth finger

- Hypoplastic thenar eminences

- Medial deviation of the great toe (hallux varus), a useful diagnostic sign when present

- Small great toenail

- Fifth-finger clinodactyly, secondary to a shortened middle phalanx

- Short feet

- Altered dermatoglyphics of the hands; when present, primarily involving distal placement of the axial triradius, lack of thenar or hypothenar patterning, low arches on the thumbs, thin ulnar loops (deficiency of radial loops and whorls), and a greatly reduced ridge count on the fingers

Radiographic findings

- Hypoplasia of the distal phalanx and first metacarpal of the thumbs and great toes

- Pointed distal phalanges of the thumb

- Lack of normal tufting of the distal phalanges of the great toes

- Fusions of the cuneiform to other tarsal bones or trapezium-scaphoid fusion of the carpals

- Short calcaneus

- Occasional bony fusions of the middle and distal phalanges of the second, third, fourth, or fifth toes

- Delayed carpal or tarsal maturation

- Metacarpophalangeal profile reflecting shortening of the first metacarpal, the first and second phalanges, and the second phalanx of the second and fifth digits

Urogenital Defects

Females may have the following:

- Vesicoureteral reflux secondary to ureteric incompetence

- Ectopic ureteral orifices

- Trigonal hypoplasia

- Hypospadiac urethra

- Subsymphyseal epispadias

- Patulous urethra

- Urinary incontinence (related to structural anomalies and weakness of the bladder sphincter muscle)

- Small hymenal opening

- Various degrees of incomplete Müllerian fusion with or without two cervices or a longitudinal vaginal septum

Males may have the following:

- Retrograde ejaculation (related to structural anomalies and weakness of the bladder sphincter muscle)

According to the American Academy of Dermatology, the most common types of moles are skin tags, raised moles and flat moles. Benign moles are usually brown, tan, pink or black (especially on dark-colored skin). They are circular or oval and are usually small (commonly between 1–3 mm), though some can be larger than the size of a typical pencil eraser (>5 mm). Some moles produce dark, coarse hair. Common mole hair removal procedures include plucking, cosmetic waxing, electrolysis, threading and cauterization.

Syndactyly can be simple or complex.

- In simple syndactyly, adjacent fingers or toes are joined by soft tissue.

- In complex syndactyly, the bones of adjacent digits are fused. The kangaroo exhibits complex syndactyly.

Syndactyly can be complete or incomplete.

- In complete syndactyly, the skin is joined all the way to the tip of the involved digits.

- In incomplete syndactyly, the skin is only joined part of the distance to the tip of the involved digits.

Complex syndactyly occurs as part of a syndrome (such as Apert syndrome) and typically involves more digits than simple syndactyly.

Fenestrated syndactyly means the skin is joined for most of the digit but in a proximal area there is gap in the syndactyly with normal skin. This type of syndactyly is found in amniotic band syndrome.

Simple syndactyly can be full or partial, and is present at birth (congenital). In early human fetal development, webbing (syndactyly) of the toes and fingers is normal. At about 6 weeks of gestation, apoptosis takes place due to a protein named sonic hedgehog, also known as SHH, which dissolves the tissue between the fingers and toes, and the webbing disappears. In some fetuses, this process does not occur completely between all fingers or toes and some residual webbing remains.

Chief markers of Goldenhar syndrome are incomplete development of the ear, nose, soft palate, lip, and mandible on usually one side of the body. Additionally, some patients will have growing issues with internal organs, especially heart, kidneys, and lungs. Typically, the organ will either not be present on one side or will be underdeveloped. Note that while it is more usual for there to be problems on only one side, it has been known for defects to occur bilaterally (approximate incidence 10% of confirmed GS cases).

Other problems can include severe scoliosis (twisting of the vertebrae), limbal dermoids, and hearing loss (see hearing loss with craniofacial syndromes), and deafness or blindness in one or both ears/eyes, Granulosa cell tumors may be associated as well.

Some sources equate the term mole with "melanocytic nevus". Other sources reserve the term "mole" for other purposes such as the animal of the same name.

Melanocytic nevi represent a family of lesions. The most common variants are:

- Location:

- Junctional nevus: the nevus cells are located along the junction of the epidermis and the underlying dermis. A junctional nevus is flat and brown to black.

- Compound nevus: a mixture of junctional and intradermal proliferation. Compound nevi are slightly raised and brown to black. Beauty marks are usually compound nevi of either the acquired variety or congenital variety.

- Intradermal nevus: the nevus cells are located in the dermis only. Intradermal nevi are raised; most are flesh-colored (not pigmented).

- Dysplastic nevus (nevus of Clark): usually a compound nevus with cellular and architectural dysplasia. Like typical moles, dysplastic nevi can be flat or raised. While they vary in size, dysplastic nevi are typically larger than normal moles and tend to have irregular borders and irregular coloration. Hence, they resemble melanoma, appear worrisome, and are often removed to clarify the diagnosis. Dysplastic nevi are markers of risk when they are numerous (atypical mole syndrome). According to the National Cancer Institute (NIH), doctors believe that, when part of a series or syndrome of multiple moles, dysplastic nevi are more likely than ordinary moles to develop into the most virulent type of skin cancer called melanoma.

- Blue nevus: It is blue in color as its melanocytes are very deep in the skin. The nevus cells are spindle shaped and scattered in deep layers of the dermis. The covering epidermis is normal.

- Spitz nevus: a distinct variant of intradermal nevus, usually in a child. They are raised and reddish (non-pigmented). A pigmented variant, called the 'nevus of Reed', typically appears on the leg of young women.

- Acquired nevus: Any melanocytic nevus that is not a congenital nevus or not present at birth or near birth. This includes junctional, compound and intradermal nevus.

- Congenital nevus: Small to large nevus present at or near time of birth. Small ones have low potential for forming melanomas, however the risk increases with size, as in the giant pigmented nevus.

- Giant pigmented nevus: these large, pigmented, often hairy congenital nevi. They are important because melanoma may occasionally (10 to 15%) appear in them.

- Intramucosal nevus: junctional nevus of the mucosa of the mouth or genital areas. In the mouth, they are found most frequently on the hard palate.

- Nevus of Ito and nevus of Ota: congenital, flat brownish lesions on the face or shoulder.

- Mongolian spot: congenital large, deep, bluish discoloration which generally disappears by puberty. It is named for its association with East Asian ethnic groups but is not limited to them.

- Recurrent nevus: Any incompletely removed nevus with residual melanocytes left in the surgical wound. It creates a dilemma for the patient and physician, as these scars cannot be distinguished from a melanoma.