Sakati-Nyhan-Tisdale syndrome
Encyclopedia
Sakati-Nyhan-Tisdale Syndrome, also called acrocephalopolysyndactyly type III, is a rare genetic disorder
that has been associated with abnormalities in the bone
s of the legs, congenital heart defect
s and craniofacial
defects. The syndrome belongs to a group of rare genetic disorders known as acrocephalopolysyndactyly or ACPS, for short.
n pediatrician named Nadia Awni Sakati and her two American
counterparts, William Leo Nyhan and W.K. Tisdale, who were working alongside her in the pediatrics department at University of California, San Diego
.
It was characterized in 1971.
s between certain bones of the skull
in a process known as craniosynostosis
. As documented in the first case, the victim tends to suffer from cyanosis
and other respiratory and breathing infections, all before the age of one. Body development subsequently slows down, but some problems can be fixed under proper guidance, such as learning to walk with special crutches by five years of age. Craniofacial problems are present that have no effect on the patient's intelligence and mental growth.
Most problems resulting from the syndrome are physical. It causes acrocephaly
, making the head appear pointed, and webbing or syndactyly
of certain toes or fingers.
Genetic disorder
A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. Most genetic disorders are quite rare and affect one person in every several thousands or millions....
that has been associated with abnormalities in the bone
Bone
Bones are rigid organs that constitute part of the endoskeleton of vertebrates. They support, and protect the various organs of the body, produce red and white blood cells and store minerals. Bone tissue is a type of dense connective tissue...
s of the legs, congenital heart defect
Congenital heart defect
A congenital heart defect is a defect in the structure of the heart and great vessels which is present at birth. Many types of heart defects exist, most of which either obstruct blood flow in the heart or vessels near it, or cause blood to flow through the heart in an abnormal pattern. Other...
s and craniofacial
Craniofacial
Craniofacial may be used to describe certain congenital malformations, injuries, surgeons who subspecialize in this area, multi-disciplinary medical-surgical teams that treat and do research on disorders affecting this region, and organizations with interest in...
defects. The syndrome belongs to a group of rare genetic disorders known as acrocephalopolysyndactyly or ACPS, for short.
Eponym
The disease was named after a SyriaSyria
Syria , officially the Syrian Arab Republic , is a country in Western Asia, bordering Lebanon and the Mediterranean Sea to the West, Turkey to the north, Iraq to the east, Jordan to the south, and Israel to the southwest....
n pediatrician named Nadia Awni Sakati and her two American
United States
The United States of America is a federal constitutional republic comprising fifty states and a federal district...
counterparts, William Leo Nyhan and W.K. Tisdale, who were working alongside her in the pediatrics department at University of California, San Diego
University of California, San Diego
The University of California, San Diego, commonly known as UCSD or UC San Diego, is a public research university located in the La Jolla neighborhood of San Diego, California, United States...
.
It was characterized in 1971.
Presentation
The syndrome was first reported in an eight-year-old boy, but very few cases have been reported since then. The syndrome is detected by abnormalities noted at birth involving the head, limbs, heart, ears, and skin. It is characterized by premature closure of the fibrous jointJoint
A joint is the location at which two or more bones make contact. They are constructed to allow movement and provide mechanical support, and are classified structurally and functionally.-Classification:...
s between certain bones of the skull
Human skull
The human skull is a bony structure, skeleton, that is in the human head and which supports the structures of the face and forms a cavity for the brain.In humans, the adult skull is normally made up of 22 bones...
in a process known as craniosynostosis
Craniosynostosis
Craniosynostosis is a condition in which one or more of the fibrous sutures in an infant skull prematurely fuses by ossification, thereby changing the growth pattern of the skull...
. As documented in the first case, the victim tends to suffer from cyanosis
Cyanosis
Cyanosis is the appearance of a blue or purple coloration of the skin or mucous membranes due to the tissues near the skin surface being low on oxygen. The onset of cyanosis is 2.5 g/dL of deoxyhemoglobin. The bluish color is more readily apparent in those with high hemoglobin counts than it is...
and other respiratory and breathing infections, all before the age of one. Body development subsequently slows down, but some problems can be fixed under proper guidance, such as learning to walk with special crutches by five years of age. Craniofacial problems are present that have no effect on the patient's intelligence and mental growth.
Most problems resulting from the syndrome are physical. It causes acrocephaly
Apert syndrome
Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first branchial arch, the precursor of the maxilla and mandible...
, making the head appear pointed, and webbing or syndactyly
Syndactyly
Syndactyly is a condition wherein two or more digits are fused together. It occurs normally in some mammals, such as the siamang and kangaroo, but is an unusual condition in humans.-Classification:...
of certain toes or fingers.