Anotia is a rare congenital disorder in which the visible portion of the ear (external ear) is completely missing at birth. It can affect one or both ears. Learn more about Anotia.
This condition is also called Acrocephalosyndactyly, which means a dome- shaped head with fusion of the fingers. Learn more about Apert Syndrome.
BWS is caused by changes in activity of genes that either suppress or promote growth of cells in the body. Common characteristics of BWS include enlarged tongue, large body size (or one side of the body being bigger than the other), omphalocele, and hypoglycemia. Learn more about Beckwith-Wiedemann 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 about Binder Syndrome.
Cerebrocostomandibular syndrome is an extremely rare congenital disorder that impacts the jaw and mouth. Learn more about Cerebrocostomandibular 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 about CHARGE.
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. Learn more about Chromosome 22q11.2 Deletion.
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 about Cleft Lip and/or Palate.
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 about Complex Cutis Aplasia.
Congenital radioulnar synostosis is a condition in which there is an abnormal bony connection between the radius and the ulna, two forearm bones. A similar condition, congenital radial head dislocation, refers to dislocation of the radial head from the proximal radioulnar joint. Learn more about Congenital Radioulnar Synostosis - Congenital Radial Head Dislocation.
Craniofacial is a broad medical term that describes abnormalities of the bones of the skull and face. Learn more about Craniofacial Abnormalities.
When a baby has craniosynostosis, however, one or more of the bones of the skull are joined together by bone prematurely, which lead to problems depending on which, and how many sutures may have closed early. Learn more about Craniosynostosis.
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 about Crouzon Syndrome.
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 about Cryptotia.
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 about Deformational Plagiocephaly.
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. This cause a small firm mass to develop. They are commonly found at the eyebrow, nose, and scalp. Learn more about Dermoid Cyst.
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. All disorders are categorized by unusual movement, weakness or paralysis of all or part of the face. Learn more about Disorders of the Facial Nerve and Skull Base.
If a child is born with an ear that is not formed properly, this is known as an ear deformity (or ear malformation) in newborns. They can range widely in nature and severity. Learn more about Ear Deformity in Newborns.
Irregularities in the shape of a newborn’s ears are often overlooked by parents and the medical community. Families and even physicians may not be aware that ear deformities can be successfully treated without surgery during early infancy. Learn more about Ear Molding.
Goldenhar syndrome is a disorder that is present at birth. It usually manifests as congenital anomalies of the eye, ear on one or both sides of the face, as well as spine. Learn more about Goldenhar Syndrome.
If a baby is born with the tissue on one side of the face underdeveloped, this is known as hemifacial microsomia. Learn more about Hemifacial Microsomia.
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 about Hemihyperplasia.
Macroglossia, or enlargement of the tongue, is one of the hallmark features of BWS. It affects approximately 90 percent of children with BWS. Learn more about Macroglossia.
McCune-Albright syndrome is a genetic disorder that impacts the bones, skin and endocrine system. Learn more about McCune-Albright Syndrome.
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 about Metopic Synostosis.
Micrognathia is the medical term for an undersized jaw. It is typically present along with other birth defects and facial abnormalities, and it can cause difficulty with a infants feeding and breathing. Learn more about Micrognathia.
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 about Microtia.
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 (they can’t smile, frown, suck, grimace or blink their eyes) and unable to move their eyes laterally. Learn more about Moebius Syndrome.
When an infant is born, the seams (sutures) of the bones that make up the skull are normally joined together by soft fibrous (scar like) tissue. Muenke syndrome is a birth defect in which one or more of these bones close early (called craniosynostosis) before birth. Learn more about Muenke Syndrome.
When an infant is born, the bones that make up the skull are typically not joined together fully. Craniosynostosis occurs when the skull bones are joined together prematurely. Non-syndromic craniosynostosis means that there is a fusion of skull bones in the head early on that is not associated with a known syndrome. Learn more about Non-Syndromic Craniosynostosis.
Please see Hemifacial Microsomia for further information.
As the name suggests, oral facial digital syndrome is a genetic disorder that primarily affects the development of the mouth, face, fingers and toes. Learn more about Oral Facial Digital Syndrome.
Orbital hypertelorism describes a birth defect where the distance between the eyes is larger than normal. Learn more about Orbital Hypertelorism.
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 about Palatal Tumors.
Pfeiffer syndrome is a genetic disorder characterized by early fusion of the bones of the skull (craniosynostosis). This in turn leads to abnormalities of the head and face. Learn more about Pfeiffer Syndrome.
Common clinical characteristics of Pierre Robin Sequence are micrognathia (small lower jaw) or retrognathia (set back lower jaw), glossoptosis (displacement of the tongue to the back of the throat), and airway obstruction leading to difficulty with breathing. Learn more about Pierre Robin Sequence.
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. Learn more about Pilomatrixoma.
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 about Protruding Ears.
Facial injuries involve the face and/or upper jaw and include injuries to the skin, facial bones, nose, sinuses, eye socket or teeth. Learn more about Severe Facial Injuries.
Smith-Lemli-Opitz syndrome is a genetic disorder that presents with slow growth before and after birth and multiple anomalies at birth. Learn more about Smith-Lemli-Opitz Syndrome.
When an infant is born, the bones that make up the skull are typically not joined together fully. Craniosynostosis occurs when the skull bones are joined together prematurely. 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 about Syndromic Craniosynostosis.
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 about Treacher Collins.
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. Learn more about Van der Woude Syndrome.