Sakati–Nyhan–Tisdale syndrome is a rare

genetic disorder A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders ...

that has been associated with abnormalities in the

bone A bone is a rigid organ that constitutes part of the skeleton in most vertebrate animals. Bones protect the various other organs of the body, produce red and white blood cells, store minerals, provide structure and support for the body, ...

s of the legs,

congenital heart defect A congenital heart defect (CHD), also known as a congenital heart anomaly, congenital cardiovascular malformation, and congenital heart disease, is a defect in the structure of the heart or great vessels that is present at birth. A congenital h ...

s and

craniofacial Craniofacial surgery is a surgical subspecialty that deals with congenital and acquired deformities of the head, skull, face, neck, jaws and associated structures. Although craniofacial treatment often involves manipulation of bone, craniofacial ...

defects. The syndrome belongs to a group of rare genetic disorders known as acrocephalopolysyndactyly, or ACPS for short.

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

joint A joint or articulation (or articular surface) is the connection made between bones, ossicles, or other hard structures in the body which link an animal's skeletal system into a functional whole.Saladin, Ken. Anatomy & Physiology. 7th ed. McGraw- ...

s between certain bones of the

skull The skull, or cranium, is typically a bony enclosure around the brain of a vertebrate. In some fish, and amphibians, the skull is of cartilage. The skull is at the head end of the vertebrate. In the human, the skull comprises two prominent ...

in a process known as

craniosynostosis Craniosynostosis is a condition in which one or more of the fibrous sutures in a young infant's skull prematurely fuses by turning into bone (ossification), thereby changing the growth pattern of the skull. Because the skull cannot expand perpe ...

. As documented in the first case, the victim tends to suffer from

cyanosis Cyanosis is the change of Tissue (biology), tissue color to a bluish-purple hue, as a result of decrease in the amount of oxygen bound to the hemoglobin in the red blood cells of the capillary bed. Cyanosis is apparent usually in the Tissue (bi ...

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 A crutch is a mobility aid that transfers weight from the human leg, legs to the upper body. It is often used by people who cannot use their legs to support their weight, for reasons ranging from short-term injuries to lifelong disabilities. Hi ...

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 Syndactyly is a condition wherein two or more digits are fused together. It occurs normally in some mammals, but is an unusual condition in humans. The term is . Classification Syndactyly can be simple or complex. * In simple syndactyly, adja ...

of certain toes or fingers.

Causes

Although no cause has been officially confirmed, researchers speculate the disease might result from a

genetic mutation In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis ...

that sporadically occurs for unknown reasons.

Diagnosis

Treatment

Eponym

The disease was named after a

Syria Syria, officially the Syrian Arab Republic, is a country in West Asia located in the Eastern Mediterranean and the Levant. It borders the Mediterranean Sea to the west, Turkey to Syria–Turkey border, the north, Iraq to Iraq–Syria border, t ...

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 The University of California, San Diego (UC San Diego in communications material, formerly and colloquially UCSD) is a public university, public Land-grant university, land-grant research university in San Diego, California, United States. Es ...

. It was characterized in 1971.

References

External links

{{DEFAULTSORT:Sakati-Nyhan-Tisdale syndrome Congenital heart defects Genetic disorders with OMIM but no gene Cardiogenetic disorders Syndromes