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All that was known at the time was the characteristic swelling pattern and the increase and then regress of bone lesions. [10] By the time the children reached the ages of fifteen, sixteen, and seventeen, the facial deformity had become an obvious disfigurement and in 1943, the children were operated on by the Jones medical team, reducing the ...
Nager acrofacial dysostosis, also known as Nager syndrome, is a genetic disorder which displays several or all of the following characteristics: underdevelopment of the cheek and jaw area, down-sloping of the opening of the eyes, lack or absence of the lower eyelashes, kidney or stomach reflux, hammer toes, shortened soft palate, lack of development of the internal and external ear, possible ...
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 ...
Saethre–Chotzen syndrome (SCS), also known as acrocephalosyndactyly type III, is a rare congenital disorder associated with craniosynostosis (premature closure of one or more of the sutures between the bones of the skull). This affects the shape of the head and face, resulting in a cone-shaped head and an asymmetrical face.
Macrocephaly-cutis marmorata telangiectatica congenita syndrome, Megalencephaly-cutis marmorata telangiectatica congenita syndrome: A newborn child with M-CM syndrome. A port-wine stain is visible under the nose. On the right side of a cheek, capillary malformations are present.
Smith–Magenis syndrome (SMS), also known as 17p-microdeletion syndrome, is a microdeletion syndrome characterized by an abnormality in the short (p) arm of chromosome 17. [1] It has features including intellectual disability , facial abnormalities, difficulty sleeping, and numerous behavioral problems such as self-harm.
Mason van Dyk (born 2013), despite being given a life expectancy of one to five days, was 5 years old as of July 2018. [35] Doctors told his mother, Lisa van Dyk, that he was the first case of harlequin ichthyosis in South Africa, and that she has a one-in-four chance of having another child with the disease .
Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, often hereditary neuromuscular disorder with many symptoms that can occur such as muscle weakness, hypoventilation, swallowing dysfunction, and impaired speech ability. The severity of these symptoms varies and can change throughout one's life to some extent.