Common symptoms include:

- tachycardia (a heart rate exceeding the normal resting rate)

- respiratory problems

- dyspnea (shortness of breath)

- continuous "machine-like" (also described as "rolling-thunder" and "to-and-fro") heart murmur (usually from aorta to pulmonary artery, with higher flow during systole and lower flow during diastole)

- cardiomegaly (enlarged heart, reflecting ventricular dilation and volume overload)

- left subclavicular thrill

- bounding pulse

- widened pulse pressure

- increased cardiac output

- increased systolic pressure

- poor growth

- differential cyanosis, i.e. cyanosis of the lower extremities but not of the upper body.

Patients typically present in good health, with normal respirations and heart rate. If the PDA is moderate or large, widened pulse pressure and bounding peripheral pulses are frequently present, reflecting increased left ventricular stroke volume and diastolic run-off of blood into the (initially lower-resistance) pulmonary vascular bed. Prominent suprasternal and carotid pulsations may be noted secondary to increased left ventricular stroke volume.

Patent ductus arteriosus (PDA) is a condition wherein the ductus arteriosus fails to close after birth.

Early symptoms are uncommon, but in the first year of life include increased 'work of breathing' and poor weight gain. An uncorrected PDA may lead to congestive heart failure with increasing age.

The ductus arteriosus is a fetal blood vessel that closes soon after birth. In a PDA, the vessel does not close and remains "patent" (open), resulting in irregular transmission of blood between the aorta and the pulmonary artery. PDA is common in newborns with persistent respiratory problems such as hypoxia, and has a high occurrence in premature newborns. Premature newborns are more likely to be hypoxic and have PDA due to underdevelopment of the heart and lungs.

A PDA allows a portion of the oxygenated blood from the left heart to flow back to the lungs by flowing from the aorta (which has higher pressure) to the pulmonary artery. If this shunt is substantial, the neonate becomes short of breath: the additional fluid returning to the lungs increases lung pressure, which in turn increases the energy required to inflate the lungs. This uses more calories than normal and often interferes with feeding in infancy. This condition, as a constellation of findings, is called congestive heart failure.

In some congenital heart defects (such as in transposition of the great vessels) a PDA may need to remain open, as it is the only way that oxygenated blood can mix with deoxygenated blood. In these cases, prostaglandins are used to keep the DA open until surgical correction of the heart defect is completed.

The ostium secundum atrial septal defect is the most common type of atrial septal defect, and comprises 6–10% of all congenital heart diseases.

The secundum atrial septal defect usually arises from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum. About 10 to 20% of individuals with ostium secundum ASDs also have mitral valve prolapse.

An ostium secundum ASD accompanied by an acquired mitral valve stenosis is called Lutembacher's syndrome.

Most individuals with an uncorrected secundum ASD do not have significant symptoms through early adulthood. More than 70% develop symptoms by about 40 years of age. Symptoms are typically decreased exercise tolerance, easy fatigability, palpitations, and syncope.

Complications of an uncorrected secundum ASD include pulmonary hypertension, right-sided heart failure, atrial fibrillation or flutter, stroke, and Eisenmenger's syndrome.

While pulmonary hypertension is unusual before 20 years of age, it is seen in 50% of individuals above the age of 40. Progression to Eisenmenger's syndrome occurs in 5 to 10% of individuals late in the disease process.

Ventricular septal defect is usually symptomless at birth. It usually manifests a few weeks after birth.

VSD is an acyanotic congenital heart defect, aka a left-to-right shunt, so there are no signs of cyanosis in the early stage. However, uncorrected VSD can increase pulmonary resistance leading to the reversal of the shunt and corresponding cyanosis.

- Pansystolic (Holosystolic) murmur along lower left sternal border (depending upon the size of the defect) +/- palpable thrill (palpable turbulence of blood flow). Heart sounds are normal. Larger VSDs may cause a parasternal heave, a displaced apex beat (the palpable heartbeat moves laterally over time, as the heart enlarges). An infant with a large VSD will fail to thrive and become sweaty and tachypnoeic (breathe faster) with feeds.

The restrictive VSDs (smaller defects) are associated with a louder murmur and more palpable thrill (grade IV murmur). Larger defects may eventually be associated with pulmonary hypertension due to the increased blood flow. Over time this may lead to an Eisenmenger's syndrome the original VSD operating with a left-to-right shunt, now becomes a right-to-left shunt because of the increased pressures in the pulmonary vascular bed.

Type 4 also known as muscular (trabecular)

- Located in the muscular septum, found in 20%. Can be sub classified again based on the location into anterior, apical, posterior and mid

Symptoms may begin quickly or slowly depending on the size of the embolus and how much it blocks the blood flow. Symptoms of embolisation in an organ vary with the organ involved but commonly include:

- Pain in the involved body part

- Temporarily decreased organ function

Later symptoms are closely related to infarction of the affected tissue. This may cause permanently decreased organ function.

For example, symptoms of myocardial infarction mainly include chest pain, dyspnea, diaphoresis (an excessive form of sweating), weakness, light-headedness, nausea, vomiting, and palpitations.

Symptoms of limb infarction include coldness, decreased or no pulse beyond the site of blockage, pain, muscle spasm, numbness and tingling, pallor and muscle weakness, possibly to the grade of paralysis in the affected limb.

A carotid-cavernous fistula (CCF) results from an abnormal communication between the arterial and venous systems within the cavernous sinus in the skull. It is a type of arteriovenous fistula. As arterial blood under high pressure enters the cavernous sinus, the normal venous return to the cavernous sinus is impeded and this causes engorgement of the draining veins, manifesting most dramatically as a sudden engorgement and redness of the eye of the same side.

CCF symptoms include bruit (a humming sound within the skull due to high blood flow through the arteriovenous fistula), progressive visual loss, and pulsatile proptosis or progressive bulging of the eye due to dilatation of the veins draining the eye. Pain is the symptom that patients often find the most difficult to tolerate.

Patients usually present with sudden or insidious onset of redness in one eye, associated with progressive proptosis or bulging.

They may have a history of similar episodes in the past.

Arterial emboli often occur in the legs and feet. Some may occur in the brain, causing a stroke, or in the heart, causing a heart attack. Less common sites include the kidneys, intestines, and eyes.

Omphalomesenteric duct cysts (ODC, also known as an omphalomesenteric duct remnant or vitelline cyst) are developmental defects relating to the closure of the omphalomesenteric duct. It usually disintegrates within six weeks of gestation, but remnants of the cyst can sometimes be found along the intestines or umbilicus. Any remnants can be removed via surgical means.

A perforated septum can vary in size and location, and is usually found deep inside the nose. It may be asymptomatic, or cause a variety of signs and symptoms. Small perforations can cause a whistling noise when breathing. Larger perforations usually have more severe symptoms. These can be a combination of crusting, blood discharge, difficulty breathing, nasal pressure and discomfort. The closer the perforation is to the nostrils, the more likely it is to cause symptoms.

Impaired venous outflow is often caused by a hypoplastic jugular foramen. This causes an increase in the intracranial blood volume, thereby causing an increase in intracranial pressure.

This can be further complicated with a possible Arnold-Chiari malformation, which can partially obstruct the flow of cerebro-spinal fluid from the neurocranium to the spinal cord. The Chiari malformation may be asymptomatic or present with ataxia, spasticity or abnormalities in breathing, swallowing or sleeping.

Due to the impaired venous outflow, which may be further complicated with an Arnold-Chiari malformation, there is often a clinical image of hydrocephalus present. Hydrocephalus is seen in 6.5 to 8% of patients with Apert's syndrome, 25.6% in patients with Crouzon's syndrome and 27.8% of those with Pfeifer's syndrome.

Ventriculomegaly is a usual finding in children with the Apert syndrome.

A nasal septum perforation is a medical condition in which the nasal septum, the cartilaginous membrane dividing the nostrils, develops a hole or fissure.

This may be brought on directly, as in the case of nasal piercings, or indirectly, as by long-term topical drug application, including intranasal ethylphenidate, methamphetamine, cocaine, crushed prescription pills, or decongestant nasal sprays, chronic epistaxis, excessive nose picking and as a complication of nasal surgery like septoplasty or rhinoplasty. Much less common causes for perforated nasal septums include rare granulomatous inflammatory conditions like granulomatosis with polyangiitis. It has been reported as a side effect of anti-angiogenesis drugs like bevacizumab.

The diagnosis of duodenal atresia is usually confirmed by radiography. An X-ray of the abdomen shows two large air filled spaces, the so-called "double bubble" sign. The air is trapped in the stomach and proximal duodenum, which are separated by the pyloric sphincter, creating the appearance of two bubbles visible on x-ray. Since the closure of the duodenum is complete in duodenal atresia, no air is seen in the distal duodenum.

Atresias occurring distal to the duodenum are usually caused by vascular accidents or ischemic insult, such as jejunoileal atresia.

During pregnancy, duodenal atresia is associated with increased amniotic fluid in the uterus, which is called polyhydramnios. This increase in amniotic fluid is caused by the inability of the fetus to swallow the amniotic fluid and absorb it in their digestive tract.

After birth, duodenal atresia may cause abdominal distension, especially of the upper abdomen. Bilious vomiting commonly occurs within the first day of life. The vomiting is described as "bilious", because it contains bile acid.

Not all cranial abnormalities seen in children with craniosynostosis are solely a consequence of the premature fusion of a cranial suture. This is especially true in the cases with syndromic craniosynostosis. Findings include elevation of the intracranial pressure; obstructive sleep apnoea(OSA); abnormalities in the skull base and neurobehavioral impairment.

Germinal matrix hemorrhage is a bleeding into the subependymal germinal matrix with or without subsequent rupture into the lateral ventricle. Such intraventricular hemorrhage can occur due to perinatal asphyxia in preterm neonates.

The classic manifestation of bladder exstrophy presents with:

- A defect in the abdominal wall occupied by both the exstrophied bladder as well as a portion of the urethra

- A flattened puborectal sling

- Separation of the pubic symphysis

- Shortening of a pubic rami

- External rotation of the pelvis.

Females frequently have a displaced and narrowed vaginal orifice, a clitoris, and divergent labia.

This may lead to various neurological sequelae including presentation with cerebral palsy, mental retardation and seizures.

A majority of individuals born with pancreas divisum will not have symptoms. In some cases, pancreas divisum is only detected during autopsy. A small group of individuals will develop symptoms which commonly include abdominal pain, nausea, vomiting, and acute and chronic pancreatitis.

As a result of the changes to the developing embryo, the symptoms are very pronounced features, especially in the face. Low-set ears are a typical characteristic, as in all of the disorders which are called branchial arch syndromes. The reason for this abnormality is that ears on a foetus are much lower than those on an adult. During normal development, the ears "travel" upward on the head; however, in Crouzon patients, this pattern of development is disrupted. Ear canal malformations are extremely common, generally resulting in some hearing loss. In particularly severe cases, Ménière's disease may occur.

The most notable characteristic of Crouzon syndrome is craniosynostosis, as described above; however it usually presents as brachycephaly resulting in the appearance of a short and broad head. Exophthalmos (bulging eyes due to shallow eye sockets after early fusion of surrounding bones), hypertelorism (greater than normal distance between the eyes), and psittichorhina (beak-like nose) are also symptoms. Additionally, external strabismus is a common occurrence, which can be thought of as opposite from the eye position found in Down syndrome. Lastly, hypoplastic maxilla (insufficient growth of the midface) results in relative mandibular prognathism (chin appears to protrude despite normal growth of mandible) and gives the effect of the patient having a concave face. Crouzon syndrome is also associated with patent ductus arteriosus (PDA) and aortic coarctation.

For reasons that are not entirely clear, most Crouzon patients also have noticeably shorter humerus and femur bones relative to the rest of their bodies than members of the general population. A small percentage of Crouzon patients also have what is called "Type II" Crouzon syndrome, distinguished by partial syndactyly.

Thyroglossal duct cysts most often present with a palpable asymptomatic midline neck mass above the level of the hyoid bone. The mass on the neck moves during swallowing or on protrusion of the tongue because of its attachment to the tongue via the tract of thyroid descent. Some patients will have neck or throat pain, or dysphagia.

The persistent duct or sinus can promote oral secretions, which may cause cysts to become infected. Up to half of thyroglossal cysts are not diagnosed until adult life. The tract can lie dormant for years or even decades, until some kind of stimulus leads to cystic dilation. Infection can sometimes cause the transient appearance of a mass or enlargement of the cyst, at times with periodic recurrences. Spontaneous drainage may also occur. Differential diagnosis are ectopic thyroid, enlarged lymph nodes, dermoid cysts and goiter.

Thyroglossal cyst usually presents as a midline neck lump (in the region of the hyoid bone) that is usually painless, smooth and cystic, though if infected, pain can occur. There may be difficulty breathing, dysphagia (difficulty swallowing), or dyspepsia (discomfort in the upper abdomen), especially if the cyst becomes large.

The most common location for a thyroglossal cyst is midline or slightly off midline, between the isthmus of the thyroid and the hyoid bone or just above the hyoid bone. A thyroglossal cyst can develop anywhere along a thyroglossal duct, though cysts within the tongue or in the floor of the mouth are rare.A thyroglossal cyst will move upwards with protrusion of the tongue.Thyroglossal cysts are associated with an increased incidence of ectopic thyroid tissue. Occasionally, a lingual thyroid can be seen as a flattened strawberry-like lump at the base of the tongue.

Bladder exstrophy (also known as ectopia vesicae) is a congenital anomaly that exists along the spectrum of the exstrophy-epispadias complex and most notably involves protrusion of the urinary bladder through a defect in the abdominal wall. Its presentation is variable, often including abnormalities of the bony pelvis, pelvic floor, and genitalia. The underlying embryologic mechanism leading to bladder exstrophy is unknown, though it is thought to be in part due to failed reinforcement of the cloacal membrane by underlying mesoderm.

A thyroglossal cyst is a fibrous cyst that forms from a persistent thyroglossal duct. Thyroglossal cysts can be defined as an irregular neck mass or a lump which develops from cells and tissues left over after the formation of the thyroid gland during developmental stages.

Thyroglossal cysts are the most common cause of midline neck masses and are generally located caudal to (below) the hyoid bone. These neck masses can occur anywhere along the path of the thyroglossal duct, from the base of the tongue to the suprasternal notch.

Other common causes of midline neck masses include lymphadenopathy, dermoid cysts, and various odontogenic anomalies.

Thyroglossal cysts develop at birth. Many diagnostic procedures may be use to establish the degree of the cyst.