Syndromes – Craniofacial Deformities

Craniofacial syndromes are a diverse group of deformities in the growth of the head and facial bones. Dysmorphology is the study of disordered development, resulting in recognizable morphologic abnormalities that fall outside the range of normal human variation.

Craniosynostosis

• Plagiocephaly – Unilateral Coronal Craniosynostosis
• Deformational Unilateral Skull Deformity
• Bilateral Coronal Craniosynostosis
• Acrocephaly or Turricephaly
• Kleeblattschädel Anomaly

Cleft Lip and Cleft Palate

 

Crouzon Syndrome

 

Apert Syndrome

Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands, and feet. Along with craniosynostosis, webbed fingers and toes (syndactyly) in Apert Syndrome is one of the distinguishing features with fusion of two or more digits both on the hands and the feet.

Pfeiffer Syndrome 

Pfeiffer Syndrome is a rare genetic disorder characterized by the premature fusion of skull bones (craniosynostosis), which prevents further growth of the skull which leads to bulging and wide-set eyes, a high, prominent forehead (turribrachycephaly), an underdeveloped upper jaw (maxillary hypoplasia), and a beaked nose.

Saethre–Chotzen Syndrome (SCS)

Saethre–Chotzen Syndrome (SCS) (Acrocephalosyndactyly type III) is a rare congenital disorder associated with premature closure of the skull bones (craniosynostosis ), resulting in a cone-shaped head and an asymmetrical face.

Carpenter Syndrome

 

Velocardiofacial Syndrome

Velocardiofacial Syndrome (VCFS) (22Q Deletion) is a syndrome that includes as part of its phenotypic (observable characteristics) spectrum:

• DiGeorge sequence
• Pierre Robin sequence
• Disorders associated with CHARGE syndrome – Coloboma of the eye, Heart defects, Atresia of the nasal choanae, Retardation of growth, Genital and/or urinary abnormalities, and Ear abnormalities and deafness.

Pierre Robin Sequence (PRS)

Pierre Robin Sequence (PRS) (Pierre Robin Syndrome, Pierre Robin Malformation, or Pierre Robin Anomaly) observable characteristics:

1. Micrognathia – underdeveloped lower jaw (mandible)
2. Glossoptosis – a tongue that is placed further back in the mouth
3. Cleft palate – incomplete closure of the roof of the mouth, usually U-shaped closure, is present in the majority of patients
4. Upper airway obstruction

PRS is a “sequence” because one of its features, micrognathia (small mandible), sets off a sequence of events before birth that cause the other signs (glossoptosis, cleft palate) and symptoms (airway obstruction) to appear.

Hemifacial Microsomia or Craniofacial Microsomia

Hemifacial Microsomia or Hemifacial Deformity is also known as:

• Lateral facial dysplasia
• First and second branchial arch syndrome
• Oral-mandibular-auricular syndrome
• Otomandibular dysostosis
• Hemicraniofacial Microsomia

Goldenhar Syndrome

Goldenhar Syndrome (Oculoauriculo-vertebral spectrum or OAV, Oculoauricular Dysplasia) is a variant of hemifacial microsomia

Parry-Romberg Syndrome

Parry-Romberg Syndrome (Progressive Hemifacial Atrophy, Scleroderma) is a rare nerve and skin (neurocutaneous) syndrome characterized by progressive shrinkage and degeneration of the tissues beneath the skin, usually on only one side of the face (hemifacial atrophy), but occasionally extending to other parts of the body.

Freeman–Sheldon Syndrome (FSS)

Freeman–Sheldon Syndrome (FSS) (Distal Arthrogryposis type 2A (DA2A), Craniocarpotarsal Dysplasia, Cranio-carpo-tarsal syndrome, Windmill-Vane-Hand syndrome, or Whistling-face syndrome) is a rare form of multiple congenital contracture (MCC) syndromes (arthrogryposes), and is the most severe form of distal arthrogryposis (DA). It is characterized by drooping of the upper eyelids, strabismus, low-set ears, a long philtrum, gradual hearing loss, scoliosis, and walking difficulties. Gastroesophageal reflux has been noted during infancy, but usually improves with age. The tongue may be small, and the limited movement of the soft palate may cause nasal speech. Often there is an H- or Y-shaped dimpling of the skin over the chin.

Klippel-Feil and Turner Syndromes

 

Treacher Collins Syndrome (Mandibulofacial Craniosynostosis)

 

Hypertelorism and Hypotelorism

Craniofrontonasal Dysplasia (CFND) – (Craniofrontonasal Syndrome, Craniofrontonasal Dysostosis) is a rare, X-linked malformation syndrome that affects females more than males and is usually more severe. Females have frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton, whereas males typically show only hypertelorism.

Hypertelorism (Greig Cephalopolysyndactyly Syndrome) is a disorder that affects development of the limbs, head, and face. This condition typically has one or more extra fingers or toes (polydactyly) or an abnormally wide thumb or big toe (hallux).

Hypotelorism

Cleidocranial Dysplasia 

Cleidocranial Dysplasia (Cleidocranial Dysostosis and Marie-Sainton Disease) is an abnormal (dysplasia) formation characterized by defective development of the cranial (cranial) bones and by the complete or partial absence of the collarbones (cleido-clavicles).

Hallerman-Streiff Syndrome

Hallerman-Streiff Syndrome (Oculomandibulofacial syndrome, François dyscephalic syndrome, Hallermann–Streiff–François syndrome, oculomandibulodyscephaly with hypotrichosis, Aubry syndrome, and Ullrich-Fremery-Dohna syndrome) is a congenital disorder that affects growth, cranial development, hair growth, and dental development.

Ear Microtia

Ear Microtia is a congenital deformity in which the external ear (pinna) is undeveloped. Anotia refers to an undeveloped ear.

Moebius Syndrome

Moebius Syndrome (Möbius Syndrome) is a rare congenital neurological disorder which is characterized by facial paralysis, inability to move the eyes laterally (side to side), but with normal intelligence.

Nager Syndrome

Nager syndrome is characterized by underdeveloped cheekbones (malar hypoplasia) and a very small lower jaw (micrognathia).

Miller Syndrome 

Miller Syndrome (Postaxial Acrofacial Dysostosis) is a rare genetic condition characterized by skull and face (craniofacial) malformations that occur in association with limb abnormalities.

Nasal Encephaloceles

Nasal Encephaloceles (Frontoethmoidal and Basal Encephaloceles) are very rare neural tube defects (opening in the spinal cord or brain) characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. Encephaloceles cause a groove down the middle of the skull, or between the forehead and nose, or on the backside of the skull.

Neurofibromatosis (NF)

Neurofibromatosis (NF) are inherited conditions that carry a high risk of tumor formation, particularly in the brain. The neurofibromatosis are classified as:

Neurofibromatosis type I, in which the nerve tissue grows tumors (neurofibromas) that may be benign and may cause serious damage by compressing nerves and other tissues.

Neurofibromatosis type II, in which bilateral acoustic neuromas (tumors of the vestibulocochlear nerve or cranial nerve 8 [CN VIII] also known as schwannoma) develop, often leading to hearing loss.

Schwannomatosis, in which painful schwannomas develop on cranial, spinal, and peripheral nerves.

Pfeiffer Syndrome

Pfeiffer Syndrome is a rare genetic disorder characterized by the premature fusion of skull bones (craniosynostosis), which prevents further growth of the skull which leads to bulging and wide-set eyes, a high prominent forehead (turribrachycephaly), an underdeveloped upper jaw  (maxillary hypoplasia), and a beaked nose. More than half of all children with Pfeiffer syndrome have hearing loss; dental problems are also common. Limb abnormalities include thumbs and first (big) toes that are wide and bend away from the other digits. Short fingers and toes (brachydactyly) are also common, as well as webbing or fusion between the digits (syndactyly).

Stickler Syndrome

Stickler Syndrome (Hereditary Progressive Arthro-Ophthalmopathy) is a group of genetic disorders affecting connective tissue characterized by distinctive facial abnormalities (flattened facial appearance), ocular problems, physical features of Pierre Robin sequence, hearing loss, and joint problems.

Sturge–Weber Syndrome 

Sturge–Weber Syndrome (Encephalotrigeminal Angiomatosis) is a rare congenital neurological and skin disorder often associated with port-wine stains (vascular birthmark ) of the face, glaucoma, seizures, mental retardation, and ipsilateral leptomeningeal angioma (cerebral malformations and tumors). It is characterized by abnormal blood vessels on the brain surface. Normally, only one side of the brain is affected.

Vascular Birthmarks: Hemangiomas and Vascular Malformations

If you would like more information about this craniofacial anomaly, please contact the Craniofacial Team of Texas by calling 512-377-1142 or toll free 877-612-7069 to schedule an appointment or complete an online appointment request.