Congenital Deformities and Anomalies we Treat

AIN Syndrome/Pronator Syndrome

AIN syndrome and pronator syndrome are two related conditions that involve nerve dysfunction in the area of the elbow and forearm that cause pain and other symptoms. Both are related to the nerve being compressed or entrapped. Learn more

Anotia

Anotia is a rare congenital disorder in which the visible portion of the ear is completely missing at birth. It can affect one or both ears. Learn more

Apert Syndrome

This condition is also called Acrocephalosyndactyly, which means a dome- shaped head with fusion of the fingers. Learn more

Arthrogryposis

Arthrogryposis is a condition that impacts some babies at birth. The joints don’t move very much or might not move at all. This frequently impacts the arms and legs. Often the muscles responsible for moving the joints are thin, weak, or missing. This results in joint contractures (i.e., tight joints). Learn more

Beckwith-Wiedemann Syndrome

BWS is a genetic condition caused by abnormal gene regulation. It can cause premature birth, low blood sugar, abdominal problems, and macroglossia (enlarged tongue). Learn more

Binder Syndrome

Binder syndrome is a congenital disorder characterized by a flat, underdeveloped midface and nose. The jaw might also be affected, and the face may appear imbalanced. Learn more

Birthmarks

Birthmarks are areas of abnormal skin color in a variety of sizes, shapes and colors that are present at birth or appear within a few weeks of birth in about 10%-30% of babies. Learn more

Burns of the Arm and Hand

Burns can be caused by sources of heat, such as stoves, ovens, or open flames, as well as other causes, such as chemical burns. Learn more

Camptodactyly

Camptodactyly refers to a flexion deformity of the proximal interphalangeal joint of the fingers. It may occur in just one finger, usually the pinky finer, or multiple fingers. It may be present in both hands or just one hand. Learn more

Capillary Malformations

A capillary malformation is a flat, sharply defined small or large pink, red or purple birthmark, consisting of small blood vessels that may be found anywhere on the body, but most frequently on the head/neck area. Learn more

Carpal Tunnel Syndrome

The median nerve is a mixed (motor and sensory) nerve of the upper extremity. If it becomes compressed as it travels through the wrist, the result can be carpal tunnel syndrome, which causes a number of symptoms in hand. Learn more

CHARGE Syndrome

CHARGE syndrome is an acronym for a genetic disorder that typically causes the following abnormalities: coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities and ear abnormalities. Learn more

Cleft Hand

A cleft hand is a hand deformity that is present at birth. Also known as ectrodactyly, it involves missing fingers and, sometimes, a V-shaped opening in the hand, among other abnormalities. Learn more

Cleft Lip and/or Palate

A cleft lip and/or palate is characterized by the presence of a gap (split) in the lip and/or palate seen at birth when the tissues of the lip and/or palate don't come together at all, or come together only part of the way. Learn more

Clinodactyly

Clinodactyly refers to curvature of a finger in the plane of the palm. The condition most commonly affects the pinky finger. Learn more

Complex Cutis Aplasia

Complex cutis aplasia is a disorder where skin is missing from a portion of the scalp in one or more areas. It occurs at birth in rare cases in some infants. Learn more

Congenital Hand Malformation

Any problem with the hands that develops in a fetus while it’s still in the uterus is known as a congenital hand malformation. Learn more

Congenital Radioulnar Synostosis & Radial Head Dislocation

Congenital radioulnar synostosis is a condition in which there is an abnormal bony connection between the radius and the ulna, two forearm bones. Learn more

Craniofacial Abnormalities

Craniofacial is a broad medical term that describes abnormalities of the bones of the skull and face. Learn more

Craniofacial Microsomia

Please see Oculo-Auriculo-Vertebral Spectrum for further information.

Crouzon Syndrome

Crouzon syndrome is a rare disorder that is present at birth. It is characterized by the seams between a baby’s soft skull bones closing early, which causes the face and eye sockets to develop incorrectly. Learn more

Cryptotia

Cryptotia is an ear deformity babies are born with. Specifically, the upper part of the external ear is buried beneath the scalp skin. This makes wearing glasses challenging. Learn more

Cubital Tunnel Syndrome

The ulnar nerve is a mixed (sensory and motor) nerve that runs along the inner part of the elbow. If it gets compressed, the result can be cubital tunnel syndrome, which causes a number of symptoms in the arm and hand. Learn more

Deformational Plagiocephaly

Deformational plagiocephaly refers to a defect in which the head is misshapen and often flat in one area due to pressure put on that area of the head. Learn more

Ear Deformities at Birth

When an infant is born with an irregular ear shape, they are said to have a baby ear deformity. Learn more

Ear Hemangiomas

Ear hemangiomas are non-cancerous, benign tumors that are either present on the ear at birth or develop shortly after birth. They have a red or purple color and can range in size. Some can cause ear deformities. Learn more

Epidermolysis Bullosa

Epidermolysis bullosa refers to a condition in which the skin is very fragile and blisters easily. It often appears early in life, though it can first appear during the teenage years or early adulthood. Learn more

Eye Injuries and Eye Socket Fracture

The eye socket (or orbit) is the bony opening/cup in the skull that both protects and surrounds the eye. If one or more bones surrounding the eye is broken (fractured) it's known as an eye socket or orbital fracture. Learn more

Ganglion Cyst

A ganglion cyst is a lump that frequently develops near joints or tendons of the wrist or hand. The contents of the cyst resemble joint fluid. The cyst can cause pain or limited mobility. Learn more

Goldenhar Syndrome

Goldenhar syndrome is a disorder that is present at birth. It usually manifests as congenital anomalies of the eye, ears, as well as spine. Learn more

Hand Injuries

Hand injuries can vary widely from problems that impact the wrists, such as carpal tunnel syndrome, to arthritis to accidents that result in fractures or dislocations. Learn more

Hemangiomas of Infancy

Hemangiomas of infancy are the most common vascular tumors in infants. Learn more

Hemihyperplasia

When one side of the body, such as the legs, arms, face or some combination of these, grows more than the other, this is known as hemihyperplasia. Learn more

Hypoplastic Digits

Hypoplastic digits is a rare condition sometimes present at birth in which the fingers are poorly formed or absent. Learn more

Jersey Finger

The term jersey finger refers to an injury in which the flexor tendon tears from forceful extension of the finger while it is being flexed. The term is derived from rugby players who sometimes suffer from this injury while tackling players by the “jersey”. Other injury mechanisms are sometimes seen, including catching the finger on the edge of a basketball rim while dunking. Learn more

Larsen Syndrome

Larsen syndrome is a rare genetic disorder that babies can be born with. Common symptoms of Larsen syndrome include clubfeet, scoliosis, hypermobility and other abnormalities. Learn more

Linear Scleroderma

Scleroderma (hard skin) usually describes a rare autoimmune disease that causes an increased production of dense, tough, hard, scar-like tissue to replace normal tissue. Learn more

Lymphangioma

When a disorder of the body’s lymphatic system causes a cyst or lesion to grow somewhere on the body, this is known as lymphangioma. Learn more

Macrodactyly

Macrodactyly is marked by the presence of an enlarged finger or toe on a newborn. Sometimes this condition coexists with syndactyly, in which fingers or toes are fused. What Causes Macrodactyly? Macrodactyly is a genetic disorder and tends to run in families. Treatment of Macrodactyly Macrodactyly treatment depends on the extent of the condition. Surgery can often improve the appearance and function of the affected limb. The highly trained team at the Nicklaus Children's Hospital Hand and Extremity Program can support families in identifying the best treatment options. Learn more

Macroglossia

Macroglossia is the medical term for when a child is born with an enlarged tongue. It is one of the most common features of Beckwith-Wiedemann Syndrome. Learn more

Metopic Synostosis

When the sutures in the middle of the forehead of an infant close earlier than they should, it’s known as metopic synotosis. A triangular pointed skull is a noticeable sign of this condition. Learn more

Micrognathia

Micrognathia is the medical term for an undersized jaw. It is typically present along with other birth defects and facial abnormalities. Learn more

Microtia

Microtia is a birth defect that affects the ear. When microtia is present, one of the ears is significantly smaller than the other. Learn more

Mirror Hand

Mirror hand is a very rare congenital difference. In most cases, there is mirrored symmetry of the hand with a central digit and 3 digits on either side and no thumb. Learn more

Moebius Syndrome

Moebius Syndrome is a rare condition which primarily affects the 6th and 7th cranial nerves, leaving those with the condition unable to move their faces and their eyes laterally. Learn more

Muenke Syndrome

Muenke syndrome is a birth defect in which one or more of the bones that make up the skull close early before birth. Learn more

Nerve Injuries

Nerves are the system of fibers that carry signals from the brain to the rest of the body. When an injury or damage occurs to one or many nerves, these are known as nerve injuries. Learn more

Non-Syndromic Craniosynostosis

Non-syndromic craniosynostosis is when there is a fusion of skull bones in the head early on that is not associated with a known syndrome. Learn more

Oligodactyly

Oligodactyly is the presence of fewer than five fingers or toes on the hand or foot. Learn more

Orbital Hypertelorism

Orbital hypertelorism describes a birth defect where the distance between the eyes is larger than normal. Learn more

Palatal Tumors

The palate is another word for the roof of the mouth. When abnormal growths of cells known as tumors impact the palate, these are commonly known as palatal tumors. Learn more

Peripheral Nerve Injuries

Please see Brachial Plexus Injuries for further information.

Pfeiffer Syndrome

Pfeiffer syndrome is a genetic disorder characterized by early fusion of the bones of the skull. This leads to abnormalities of the head and face in children. Learn more

Pierre Robin Sequence

Pierre Robin Sequence describes a series of characteristics in newborns which include a small or set back lower jaw, displacement of the tongue to the back of the throat, cleft palate and airway obstruction which leads to difficulty with breathing. Learn more

Plexiform Neurofibroma

Plexiform neurofibromas are a rare, benign (non-cancerous) form of tumor that can occur almost anywhere in the body, such as the face, arm, back, chest, legs and elsewhere. Learn more

Poland Syndrome

Poland syndrome is a rare condition that is characterized by underdeveloped or missing muscles that can cause anomalies in the upper body. Learn more

Polydactyly

Polydactyly refers to a condition in which a child is born with extra fingers or toes. Learn more

Protruding Ears

If the ears stick out 2 centimeters from the side of the head or more, they are known as protruding ears. They usually don’t cause any other symptoms other than the unusual physical appearance of the ears. Learn more

Radial Club Deformity

Radial club deformity is a condition in which a child’s wrist is bent in the direction of the thumb. It is present at birth and may be present in both arms. Learn more

Radial Dysplasia

Please see Radial Club Deformity for further information.

Radial Nerve Palsy

The radial nerve is responsible for sensation and movement along the posterior aspect of the arm and hand. Injury to this nerve is referred to as radial nerve palsy, and the symptoms typically include loss of sensation along the posterior aspect of arm, forearm and hand. Learn more

Radius Hypoplasia

Please see Radial Club Deformity for further information.

Scaphoid Fracture

The scaphoid bone is the most commonly fractured bone in the wrist. It is positioned on the proximal and radial side of the wrist, just proximal to the base of the thumb. Learn more

Shoulder Dystocia

Please see birth-related brachial plexus injury for further information.

Stahl's Ear

Stahl’s ear refers to an ear that is pointy and has an extra fold of cartilage in the middle portion. It is a defect that babies are born with. Learn more

Symbrachydactyly

Symbrachydactly is a hand abnormality present at birth that affects only a single limb. Learn more

Syndactyly

Syndactyly is a condition in which a baby's fingers or toes do not fully separate during pregnancy. Learn more

Syndromic Craniosynostosis

Syndromic craniosynostosis is related to a genetic condition that causes premature fusion of the skull bones and other clinical features most often involving the head and face. Learn more

Tendon Laceration

Tendon lacerations are an injury to the tendon that most commonly impacts the flexor and extensor tendons of the hand. Learn more

Thumb Hypoplasia and Aplasia

Thumb hypoplasia and aplasia are birth defects that affect the thumb. Thumb hypoplasia means that the thumb is typically underdeveloped and small. With thumb aplasia, the thumb is missing altogether. Learn more

Traumatic Brachial Plexus Injury

Injury to the brachial plexus can occur from a variety of causes. The nerves can be cut, stretched, crushed, or squeezed (compressed). Stretch or impact of the neck, shoulder or arm can lead to injuries to the nerves of the brachial plexus. Learn more

Treacher Collins Syndrome

Treacher Collins is a genetic disorder that impacts how the face develops. Specifically, it can cause abnormal development of the jaws, ears, eyelids and cheekbones. Learn more

Trigger Finger/Thumb

Trigger finger or trigger thumb is a common disorder in which a finger becomes locked in a flexed position and it catches or snaps when put into extension. Learn more

Ulnar Club Hand

Ulnar club hand is a condition in which a child’s wrist is bent in the direction of the pinky finger. It’s a congenital defect that is present at birth. Learn more

Vascular Malformations

A vascular malformation is an abnormality where clusters of blood vessels develop during fetal development. Learn more

Wrist/Hand Fracture

The hand has a total of 19 small bones that create the framework for a functioning hand. The wrist is made up of 8 small bones. The forearm is composed of two long bones, known as the ulna and radius. While any of these bones may fracture, some bone are more commonly fractured than others. The scaphoid bone is the most commonly fractured bone in the wrist. Fractures of the radius are also common. Learn more