Search results
Results from the WOW.Com Content Network
Elderly woman with craniofacial signs of Saethre-Chotzen syndrome. Flat, asymmetric head and face [3] Head is typically cone-shaped (acrocephaly) or flat (brachycephaly) but can also be long and narrow (dolichocephaly) [4] Head is short from front to back [5] Lopsided face [4] Low-set hairline causing forehead to appear tall and wide [5]
1 in 50,000 people [5] Treacher Collins syndrome (TCS) is a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin. [5] The degree to which a person is affected, however, may vary from mild to severe. [5] Complications may include breathing problems, problems seeing, cleft palate, and hearing loss. [5]
Depends on the specific symptoms [3] Frequency. 1 in 4,000 [7] DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. [7] While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental ...
Weaver syndrome is an extremely rare autosomal dominant genetic disorder associated with rapid growth beginning in the prenatal period and continuing through the toddler and youth years. It is characterized by advanced osseous maturation and distinctive craniofacial, skeletal and neurological abnormalities. [1]
Patients have characteristic abnormalities on thyroid ultrasound, and may have a slight increased risk for thyroid cancer. [8] [9] [10] Growth hormone excess: Excess growth hormone secretion and is found in approximately 10–15% of patients. [8] This may lead to expansion of craniofacial fibrous dysplasia, increasing the risk of vision and ...
Craniofacial abnormalities are congenital musculoskeletal disorders which primarily affect the cranium and facial bones. [1] They are associated with the development of the pharyngeal arches. [2] Approximately, 5% of the UK or USA population present with dentofacial deformities requiring Orthognathic surgery, jaw surgery, and Orthodontics ...
Axenfeld–Rieger syndrome is a rare autosomal dominant [2] disorder, which affects the development of the teeth, eyes, and abdominal region. [3]Axenfeld–Rieger syndrome is part of the so-called iridocorneal or anterior segment dysgenesis syndromes, [4] which were formerly known as anterior segment cleavage syndromes, anterior chamber segmentation syndromes or mesodermal dysgenesis.
Craniodiaphyseal dysplasia (CDD), also known as lionitis, is an extremely rare autosomal recessive bone disorder that causes calcium to build up in the skull, disfiguring the facial features and reducing life expectancy. These calcium deposits decrease the size of cranial foramina, and can decrease the circumference of the cervical spinal canal.