Syndromes

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.

Antley-Bixler Syndrome

Antley-Bixler Syndrome is a rare genetic disorder that is primarily characterized by distinctive malformations of the head and facial (craniofacial) area and additional skeletal abnormalities. For example, the disorder is typically associated with premature closure of the fibrous joints (cranial sutures) between particular bones of the skull (craniosynostosis). Many affected infants and children also may have a prominent forehead, underdeveloped midfacial regions (midfacial hypoplasia), protruding eyes (proptosis), and other craniofacial abnormalities. Additional skeletal malformations are usually present, such as fusion of certain adjacent bones of the arms (e.g., radiohumeral or radioulnar synostosis), long, thin fingers and toes (arachnodactyly), and bowing of the thigh bones. In addition, certain joints may become permanently flexed or extended in fixed postures (joint contractures), resulting in restricted movements.  Learn More

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.  Learn More

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).

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. Learn More

Craniosynostosis

Craniosynostosis means fused bones of the skull. It is a condition that some children are born with or later develop. Learn More

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. Learn More

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.

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. Learn More

Fibrous Dysplasia

Fibrous Dysplasia is a condition of the skeleton (bones). It is a birth defect that is a non-cancerous disease. Learn More

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. Learn More

Hallermann-Streiff syndrome

Hallermann-Streiff syndrome is a rare, congenital condition characterized mainly by abnormalities of the skull and facial bones; characteristic facial features; sparse hair; eye abnormalities; dental defects; degenerative skin changes; and proportionate short stature. Intellectual disability is present in some individuals. Almost all reported cases of the condition appear to have occurred randomly for unknown reasons (sporadically) and are thought to have resulted from a new mutation in the affected individual. Treatment is symptomatic and supportive. Learn More

Hemangioma

Hemangioma is a non-malignant tumor that is made up of rapidly growing endothel or vascular cells.

Goldenhar syndrome/Hemifacial Microsomia

Hemifacial Microsomia/Goldenhar syndrome is a condition in which the lower half of one side of the face does not grow normally. Learn More

Microtia/atresia

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).

CCA’s A Guide to Understanding Microtia and Spanish Version

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.

Moebius syndrome

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). Learn More

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.

Pfeiffer syndrome

Pfeiffer syndrome is a condition in which certain sutures are fused prematurely. Learn More

Pierre Robin Sequence

Pierre Robin Sequence is a condition in which the lower jaw is abnormally small. Learn More

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. Read stories from people with Saethre-Chotzen on The Mighty.

Treacher Collins syndrome

Treacher Collins is a condition in which the cheek-bones and jawbones are underdeveloped. Learn More