Craniofacial Disorders and Conditions we Treat

Florida’s only specialty center for children with craniofacial disorders at Nicklaus Children's Hospital is a full-service resource. It offers comprehensive management for infants, children and young adults with craniofacial disorders, including, but not limited to:

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.

Apert Syndrome

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

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).

Bell's Palsy

Bell’s palsy is a sudden unexplained episode of weakness or paralysis of part of the face muscles, usually on one side, that can occur at any age.

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.

Cerebrocostomandibular Syndrome

Cerebrocostomandibular syndrome is an extremely rare congenital disorder that impacts the jaw and mouth.

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.

Chromosome 22q11.2 Deletion

Chromosome 22q11.2 deletion is a disorder that occurs when a small part of chromosome 22 is missing at birth. It leads to a wide variety of complications in children born with the disorder.

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.

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.

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.

Craniofacial Abnormalities

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

Craniofacial Microsomia

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

Craniosynostosis

When a baby has craniosynostosis, one or more of the bones of the skull are joined together by bone prematurely. This leads to problems depending on which, and how many sutures may have closed early.

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.

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.

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.

Dermoid Cyst

Dermoid cysts in infants and children are typically embryologic remnants where tissue that was supposed to be on the outer layer of the baby develops under the skin.

Disorders of the Facial Nerve and Skull Base

The facial nerve emerges from the brainstem through the side of the skull to control the muscles of the face, and to transmit taste sensations from the tongue and mouth.

Ear Deformities at Birth

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

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.

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.

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.

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.

McCune-Albright Syndrome

McCune-Albright syndrome is a genetic disorder that impacts the bones, skin and endocrine system.

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.

Micrognathia

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

Microtia

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

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.

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.

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.

Oculo-Auriculo-Vertebral Spectrum (OAVS)

If a baby is born with the tissue on one side of the face underdeveloped, this is known as OAVS.

Oral Facial Digital Syndrome (OFD)

As the name suggests, oral facial digital syndrome is a genetic disorder that primarily affects the development of the mouth, face, fingers and toes.

Orbital Hypertelorism

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

Oromandibular Limb Hypoplasia Syndrome

This syndrome is a very rare group of a number of conditions all of whom have congenital malformations of the tongue, upper and lower jaw, with some having variable limb abnormalities as well.

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.

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.

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.

Pilomatrixoma

A non-cancerous tumor that affects a hair follicle is known as pilomatrixoma. These usually affect the hair on the head or neck but can occur elsewhere on the body, as well.

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.

Severe Facial Injuries

Facial injuries involve the face and/or upper jaw and include injuries to the skin, facial bones, nose, sinuses, eye socket or teeth.

Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz syndrome is a genetic disorder that presents with slow growth before and after birth and multiple anomalies at birth.

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.

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.

Van der Woude Syndrome

Van der Woude syndrome is a genetic disorder that affects the mouth and face. The most common symptoms are cleft lip, cleft palate, depressions (pits) or extra tissue on the lower lip and missing teeth on occasion.