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The following are brief descriptions and are intended to inform and are not intended for diagnosis. A geneticist who is a member of an experienced craniofacial team should make diagnosis.
what is a craniofacial disorder?
A craniofacial disorder refers to an abnormality of the face and/or the head. Craniofacial differences can result from abnormal growth patterns of the face or skull, which involves soft tissue and bones. A craniofacial condition may include disfigurement brought about by birth defect, disease or trauma.
apert syndrome:
SEE ALSO: CCA Guide to Apert Syndrome
Apert syndrome is a condition involving abnormal growth of the skull and the face due to early fusion of certain sutures of the skull. Children with Apert's have bulging eyes that are usually wide-set and tilted down at the sides. They usually have problems with teeth alignment due to the underdevelopment of the upper jaw. Some have cleft palate. Among other anomalies, children with Apert syndrome have webbed fingers and toes.
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carpenter syndrome:
Carpenter Syndrome belongs to a group of rare genetic disorders known as acrocephalopolysyndactyly or ACPS disorders. All forms of ACPS are characterized by webbing or fusion (syndactyly) of certain fingers or toes (digits); and/or more than the normal number of digits (polydactyly), and by the premature closure of the fibrous joints (cranial sutures) between certain bones of the skull which is known as craniosynostosis, causing the top of the head to appear pointed, or cone shaped (acrocephaly).
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cleft lip and/or palate:
Cleft Lip and/or Palate is a separation of the parts or segments of the lip or roof of the mouth, which are usually joined together during the early weeks in the development of an unborn child. A cleft lip is a separation of the two sides of the lip and often includes the bones of the maxilla and/or the upper gum. A cleft palate is an opening in the roof of the mouth and can vary in severity. A cleft palate occurs when the two sides of the palate do not fuse as the unborn baby develops.
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craniosynostosis:
SEE ALSO: CCA Guide to Craniosynostosis
Craniosynostosis means fused bones of the skull. It is a condition that some children are born with or later develop. To better understand craniosynostosis, it is helpful to know that our skulls are not made up of one single "bowl" of bone. Instead, different bones that fit together like a jigsaw puzzle make up the skull. The areas where the bones meet one another are called sutures. As a baby grows the brain rapidly increases in size. According to current theories of growth, the growing brain pushing on the bones of the skull causes the skull bones to expand or grow. When one of these sutures is fused too early, it is called craniosynostosis. There will be no growth in this area. This inability to grow in one area may lead to overgrowth in another area. This results in an abnormally shaped skull.
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crouzon syndrome:
SEE ALSO: CCA Guide to Crouzon Syndrome
Crouzon syndrome is a condition in which sutures in the head are prematurely fused resulting in abnormal growth of the skull and face. Children with Crouzon's have bulging eyes due to abnormal growth of the mid-face. They may have a receding upper jaw and protruding lower jaw. They may have problems with teeth due to abnormal jaw growth.
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facial cleft:
Facial Cleft is a rare condition in which there are areas of absent bone and sometimes overlying skin, that may occur either on one or both sides of the face.
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facial palsy:
SEE ALSO:
CCA Guide to Facial Palsy
Facial Palsy is a congenital deformity that
dates from birth, or an acquired deformity, which causes complete or
partial paralysis of the facial motion. The act of facial motion starts
in the brain and travels through the facial nerves to the muscles in the
face. These muscles then contract in response to a stimulus. Inside the
skull, the facial nerve is a single nerve. Once the nerve is traced
outside the skull, it branches into many smaller limbs that go to many
different facial muscles. These muscles control facial expression. The
coordinated activity of this nerve and these muscles cause motions such
as smiling, blinking, frowning, and a full range of normal facial
motions. Diseases or injuries affecting the brain, the facial nerve, or
the muscles of the face can cause facial palsy.
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fibrous dysplasia:
SEE ALSO: CCA Guide to Fibrous Dysplasia
Fibrous Dysplasia is a condition of
the skeleton (bones). It is a birth defect that is a
non-cancerous disease. It is not hereditary so your child did
not get it from you nor will he/she pass it along to his/her
children. Fibrous Dysplasia gets progressively worse from birth until the bones finish growing. As it progresses, normal bone is replaced by various amounts of structurally weak fibrous and osseous (bone-like) tissue.
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frontonasal dysplasia:
Frontonasal Dysplasia, also known as Median Cleft Face Syndrome, is a condition in which the nose has a flat, wide appearance, and the eyes may be wide-set. There is a groove of varying degrees, which runs down the middle of the face across the nose. In some cases the tip of the nose is missing. A gap with extra folds of skin covering it may appear on the front of the head.
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hemangioma:
Hemangioma is a non-malignant tumor that is made up of rapidly growing endothel or vascular cells.
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hemifacial microsomia/goldenhar syndrome:
SEE ALSO: CCA Guide to Hemifacial Microsomia
Hemifacial Microsomia/Goldenhar Syndrome is a condition in which the lower half of one side of the face does not grow normally. The most obvious sign of this condition is a partially formed ear or total absence of an ear. In goldenhar syndrome benign growths of the eye (epibulbar dermoids) are present. Children with Goldenhar syndrome may also have neck problems, which are most commonly caused by a fusion or bony bridges between the bones of the neck.
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microtia/artresia:
SEE ALSO: CCA Guide to Microtia
Microtia/artresia - Microtia is an incompletely formed ear. It may be just a small ear, or other variations including having only a bump of tissue at the location where the ear should normally be found. Artresia is the closing or absence of an ear canal in the middle ear. Microtia and artresia can occur alone or together. They can also be associated with hemifacial microsomia. If both ears are affected Treacher Collins Syndrome may be involved. Moebius Syndrome is characterized by a paralysis of the 6th and 7th cranial nerves, resulting in a lack of facial expression, lack of lateral eye movement and lack of blinking. (Children with this syndrome do not have a smile).
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miller syndrome:
Miller Syndrome is very rare condition characterized by downward slanting eyelids, cleft palate, recessed lower jaw, small cup shaped ears, and a broad nasal ridge. Anomalies include shortened and bowed forearms, incompletely developed ulna and radius bones in the arms, missing or webbed fingers and toes, and abnormal growth of the tibia and fibula bones in the lower legs. Occasional anomalies include heart defects, lung disease from chronic infection, extra nipples, stomach or kidney reflux, undescended testicles in males, dislocated hips, and difficult vein access.
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moebuis syndrome:
Moebuis Syndrome is a rare congenital (present at birth) developmental disorder, characterized by absence or underdevelopment of the nerves that control facial (cranial nerve 7) and eye movements (cranial nerve 6). Most people with Moebius
Syndrome have weakness or complete paralysis of the facial muscles. Children and adults with facial paralysis may be unable to smile, frown, raise their eyebrows, close their eyelids or pucker their lips. This not only results in lack of facial expression but may also result in drooling and difficulty with speech. Infants can have difficulty with sucking and swallowing.
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nager syndrome:
Nager Syndrome is a condition in which the facial characteristics include downward slanting eyelids, absence or underdeveloped cheekbones, a severely underdeveloped lower jaw, malformed outer and middle ears, clefting of the hard or soft palates, absence of lower eyelashes and scalp hair extending on the cheek. Upper limb defects include underdeveloped or missing thumbs and occasional absence of the radial limb.
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pierre robin sequence:
SEE ALSO:
CCA Guide to Pierre Robin Sequence
Pierre Robin Sequence is a condition in which the lower jaw is abnormally small. There are also problems with the tongue falling backward toward the throat. In these patients a cleft lip and a cleft palate may or may not be present.
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pfeiffer syndrome:
SEE ALSO: CCA Guide to Pfeiffer Syndrome
Pfeiffer syndrome is a condition in which certain sutures are fused prematurely. There is a high forehead, and the top of the head may appear pointed. The middle face appears flattened, the nose is small and has a flattened appearance, eyes are widely spaced, and the upper jaw is underdeveloped, which causes the lower jaw to appear prominent. The thumbs and big toes have a broad appearance and teeth are often crowed.
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saethre-chotzen:
Saethre-Chotzen syndrome is a condition in which more than one suture is fused prematurely causing irregular head growth. Eyelids are droopy while eyes are widespread and appear bulging and may be crossed. The upper jaw may be underdeveloped. The nose may appear "beaked" and the septum may be deviated; that is, the area between the nostrils is off center. Fingers are short and certain fingers may be fused. There may be a low hairline.
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treacher collins:
SEE ALSO: CCA Guide to Treacher Collins
Treacher Collins is a condition in which the cheek-bones and jawbones are underdeveloped. Children with this condition have very small or partially absent cheek bones and notches in or stretching of the lower eyelids. The ears are frequently abnormal and part of the outer ear is usually absent. Hearing loss is also associated with this syndrome.
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