Two key features of AOS are aplasia cutis congenita with or without underlying bony defects and terminal transverse limb defects. Cutis aplasia congenita is defined as missing skin over any area of the body at birth; in AOS skin aplasia occurs at the vertex of the skull. The size of the lesion is variable and may range from solitary round hairless patches to complete exposure of the cranial contents. There are also varying degrees of terminal limb defects (for example, shortened digits) of the upper extremities, lower extremities, or both. Individuals with AOS may have mild growth deficiency, with height in the low-normal percentiles. The skin is frequently observed to have a mottled appearance (cutis marmorata telangiectatica congenita). Other congenital anomalies, including cardiovascular malformations, cleft lip and/or palate, abnormal renal system, and neurologic disorders manifesting as seizure disorders and developmental delay are sometimes observed. Variable defects in blood vessels have been described, including hypoplastic aortic arch, middle cerebral artery, pulmonary arteries. Other vascular abnormalities described in AOS include absent portal vein, portal sclerosis, arteriovenous malformations, abnormal umbilical veins, and dilated renal veins.

Hemangiomas associated with PHACE Syndrome are usually small or not visible at birth, but are easier to see during the first days to weeks of life. They can grow rapidly. Hemangiomas linked with PHACE Syndrome tend to cover a large area of the face, head or neck, either as one lesion or as many single lesions.

As it grows, the hemangioma can break down skin, distort facial features or get in the way of other vital functions, such as breathing, vision, and hearing. Other complications will depend on what other structures are involved. These could include developmental delay, seizures, headaches, and abnormal muscle tone if the brain is involved.

Renal (kidney) defects are seen in approximately 50 percent of patients with VACTERL association. In addition, up to 35 percent of patients with VACTERL association have a single umbilical artery (there are usually two arteries and one vein) which is often associated with additional kidney or urologic problems. Renal abnormalities in VACTERL association can be severe, with incomplete formation of one or both kidneys or urologic abnormalities such as obstruction of outflow of urine from the kidneys or severe reflux (backflow) of urine into the kidneys from the bladder. These problems can cause kidney failure early in life and may require kidney transplant. Many of these problems can be corrected surgically before any damage can occur.

The following features are observed with VACTERL association:

- V - Vertebral anomalies

- A - Anorectal malformations

- C - Cardiovascular anomalies

- T - Tracheoesophageal fistula

- E - Esophageal atresia

- R - Renal (Kidney) and/or radial anomalies

- L - Limb defects

Although it was not conclusive whether VACTERL should be defined by at least two or three component defects, it is typically defined by the presence of at least three of the above congenital malformations.

Adams–Oliver syndrome (AOS) is a rare congenital disorder characterized by defects of the scalp and cranium (cutis aplasia congenita), transverse defects of the limbs, and mottling of the skin.

The incidence of this condition is <1 per million population. It is found only in females as all affected males die before birth. Teeth with large roots (radiculomegaly), heart defects, and small eyes (microphthalmia) are the characteristic triad found in this syndrome.

Typical features of the condition include:

- Face

- Deep set eyes

- Broad nasal tip divided by a cleft

- Eyes

- Microphthalmia (small eyes)

- Early cataracts

- Glaucoma

- Teeth

- Radiculomegaly (teeth with very large roots)

- Delayed loss of primary teeth

- Missing (oligodontia) or abnormally small teeth

- Misaligned teeth

- Defective tooth enamel.

- Heart defects

- Atrial and/or ventricular defects

- Mitral valve prolapse

- Mild mental retardation and conductive or sensorineural hearing loss may occur.

Hydrolethalus can be readily diagnosed during pregnancy through the use of ultrasound, which will often reveal hydrocephaly and an abnormal structure of the brain.

Hydrolethalus syndrome can cause heart and brain defects, a cleft lip or palate, an abnormally shaped nose or jaw, or incomplete lung development. These defects are typically serious enough to cause stillbirth or death within a few days of birth.

The various types of vWD present with varying degrees of bleeding tendency, usually in the form of easy bruising, nosebleeds, and bleeding gums. Women may experience heavy menstrual periods and blood loss during childbirth.

Severe internal bleeding and bleeding into joints are uncommon in all but the most severe type, vWD type 3.

About one third of children whose mothers are taking this drug during pregnancy typically have intrauterine growth restriction with a small head and develop minor dysmorphic craniofacial features and limb defects including hypoplastic nails and distal phalanges (birth defects). A smaller population will have growth problems and developmental delay, or intellectual disability. Methemoglobinemia is a rarely seen side effect.

Heart defects and cleft lip may also be featured.

A limb anomaly is called a dysmelia. These include all forms of limbs anomalies, such as amelia, ectrodactyly, phocomelia, polymelia, polydactyly, syndactyly, polysyndactyly, oligodactyly, brachydactyly, achondroplasia, congenital aplasia or hypoplasia, amniotic band syndrome, and cleidocranial dysostosis.

Congenital anomalies of the heart include patent ductus arteriosus, atrial septal defect, ventricular septal defect, and tetralogy of fallot.

Congenital anomalies of the nervous system include neural tube defects such as spina bifida, meningocele, meningomyelocele, encephalocele and anencephaly. Other congenital anomalies of the nervous system include the Arnold-Chiari malformation, the Dandy-Walker malformation, hydrocephalus, microencephaly, megalencephaly, lissencephaly, polymicrogyria, holoprosencephaly, and agenesis of the corpus callosum.

Congenital anomalies of the gastrointestinal system include numerous forms of stenosis and atresia, and perforation, such as gastroschisis.

Congenital anomalies of the kidney and urinary tract (CAKUT) include renal parenchyma, kidneys, and urinary collecting system.

Defects can be bilateral or unilateral, and different defects often coexist in an individual child

Several terms are used to describe congenital abnormalities. (Some of these are also used to describe noncongenital conditions, and more than one term may apply in an individual condition.)

Oculofaciocardiodental syndrome is a rare X linked genetic disorder.

Type 2 vWD (15-30% of cases) is a qualitative defect and the bleeding tendency can vary between individuals. Four subtypes exist: 2A, 2B, 2M, and 2N. These subtypes depend on the presence and behavior of the underlying multimers.

The syndrome has five characteristic findings:

- Omphalocele

- Anterior diaphragmatic hernia

- Sternal cleft with or without ectopia cordis

- Diaphragmatic pericardium defects (no diaphragmatic pericardium)

- Intracardiac defect: ventricular septal defect, diverticulum of the left ventricle, Tetralogy of Fallot

Fetal hydantoin syndrome, also called fetal dilantin syndrome is a group of defects caused to the developing fetus by exposure to teratogenic effects of phenytoin or carbamazepine. Dilantin is the brand name of the drug phenytoin sodium in the United States, commonly used in the treatment of epilepsy.

It may also be called congenital hydantoin syndrome, Fetal Hydantoin Syndrome, Dilantin Embryopathy, or Phenytoin Embryopathy.

Association with EPHX1 has been suggested.

Concerns that arise due to abdominal wall defects can be threatening and require immediate and intensive medical care. Some infections may persist for long periods of time and lead to serious complications, such as feeding problems, which can cause the infant to require several surgeries. Since these complications can be severe, it is recommended that parents work closely with a team of physicians throughout the duration of the treatment. After the treatment is completed, children with abdominal wall defects may need additional help. Additional services are usually necessary for with omphalocele and the associated chromosomal abnormalities and birth defects that also arise. Treatments in these cases are long-term and focus on the physical and developmental difficulties that the children will endure. The parents may find this process difficult and need assistance in dealing with the process by a service that is provided by the healthcare team.

Bernard–Soulier syndrome often presents as a bleeding disorder with symptoms of:

Abdominal wall defects are a type of congenital defect that allows the stomach, the intestines, or other organs to protrude through an unusual opening that forms on the abdomen.

During the development of the fetus, many unexpected changes occur inside the womb. Specifically the stomach, intestines, or other organs begin to develop outside the fetus’ abdomen through the abnormal hole in the abdomen and, as development progresses, the abdominal wall eventually encloses these organs. In some cases of defect either the umbilical opening is too oversized or has developed improperly which allows the organs to remain outside or to squeeze through the abdominal wall.

There are two main types of abdominal wall defects that result due to the changes during development. They are omphalocele and gastroschisis. Gastroschisis develops when the abdominal wall does not completely close, and the organs are present outside of the infant’s body. Omphalocele occurs when some of the organs protrude through the muscles of the abdomen in the area surrounding the umbilical cord. Omphalocele can be either minor, with only some of the organs exposed, or severe, with most, if not all of the abdominal organs being exposed.

Hydranencephaly is a condition in which the cerebral hemispheres are missing and instead filled with sacs of cerebrospinal fluid.

Pentalogy of Cantrell (or thoraco-abdominal syndrome) is a rare syndrome that causes defects involving the diaphragm, abdominal wall, pericardium, heart and lower sternum.

Its prevalence is less than 1 in 1000000.

It was characterized in 1958.

A locus at Xq25-26 has been described.

Encephaloceles are characterized by protrusions of the brain through the skull that are sac-like and covered with membrane. They can be a groove down the middle of the upper part of the skull, between the forehead and nose, or the back of the skull. Encephaloceles are often obvious and diagnosed immediately. Sometimes small encephaloceles in the nasal and forehead are undetected.

The disease is characterized by flesh-colored to erythematous (reddened) papules occurring in the central region of the face and sometimes elsewhere on the body, often accompanied by protrusive "spicules" or spines made of keratin and by alopecia of affected skin, typically the eyebrows and sometimes the eyelashes or scalp hairs. Pruritus (itching) has been described in about a third of reported cases. Facial papules are generally 1- to 3-mm in size. The condition is considered to be benign, but can be disfiguring; the spines are often prominent, and in later stages the affected facial skin thickens noticeably.

There are numerous types, differentiated by the extent of the defect. These types are:

- Type I: simple defects leading to communication between the ascending aorta and pulmonic trunk

- Type II: defects that extend to the origin of the right pulmonary artery

- Type III: anomalous origin of the right pulmonary artery from the ascending aorta

It is also classified as simple or complex. Simple defects are those that do not require surgical repair, occur with no other defects, or those that require minor stright-forward repair (ductus arteriosus, atrial septal defect). Complex defects are those that occur with other anatomical anomalies or require non-standard repair.