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Treatment includes supportive measures such as a device to protect the skull and dental care. [5] Surgery may be performed to fix certain bone abnormalities. [4] Life expectancy is generally normal. [3] It affects about one per million people. [1] Males and females are equally commonly affected. [5]
Kagami-Ogata syndrome is a rare genetic disease that is caused by mutations on Maternal chromosome 14 or by paternal UPD(14). [1] The main signs of this disease are: polyhydramnios, narrow bell-shaped thorax, coat-hanger-like ribs, abdominal wall defect, enlarged placenta. [2]
Coxa valga is a deformity of the hip where the angle formed between the head and neck of the femur and its shaft is increased, usually above 135 degrees.. The deformity may develop in children with neuromuscular disorders (i.e. cerebral palsy, spinal dysraphism, poliomyelitis), skeletal dysplasias, and juvenile idiopathic arthritis.
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 ...
Without treatment, Crouzon syndrome can cause hearing and vision loss, exposure keratitis or conjunctivitis, drying of the cornea, hydrocephalus, sleep apnea, and breathing problems. [medical citation needed] To move the orbits forward, surgeons expose the skull and orbits and reshape the bone. To treat the midface deficiency, surgeons can move ...
The disorder progresses with age, but the aforementioned treatments can help prevent or sometimes relieve symptoms. With treatment, individuals with tethered spinal cord syndrome have a normal life expectancy. Studies have shown surgery can help improve low back pain, urinary symptoms leg weakness and walking distance.
Hallermann–Streiff syndrome is a congenital disorder that affects growth, cranial development, hair-growth, and dental development.There are fewer than 200 people with the syndrome worldwide.
Congenital contractural arachnodactyly (CCA), also known as Beals–Hecht syndrome, is a rare autosomal dominant congenital connective tissue disorder. [1] As with Marfan syndrome, people with CCA typically have an arm span that is greater than their height and very long fingers and toes. [2]