Included in the links to the various syndromes are brief descriptions which are intended to inform and are not intended for diagnosis. A geneticist who is a member of an experienced craniofacial team should make a diagnosis.
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.
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).
Cleft Lip and/or Palate
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.
Hemifacial Microsomia/Goldenhar syndrome
Microtia/atresia - 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. Atresia is the closing or absence of an ear canal in the middle ear. Microtia and atresia 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).
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.
Moebius 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.
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.
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.
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.
Treacher Collins syndrome
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Children's Craniofacial Association is a national, 501(c)3 nonprofit organization, headquartered in Dallas, Texas. CCA's mission is to empower and give hope to individuals and families affected by facial differences. Nationally and internationally, CCA addresses the medical, financial, psychosocial, emotional, and educational concerns relating to craniofacial conditions.
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