Sakati Syndrome

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Sakati Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.


  • ACPS with Leg Hypoplasia
  • Acrocephalopolysyndactyly Type III
  • Sakati-Nyhan Syndrome

Disorder Subdivisions

  • None

General Discussion

Sakati syndrome is an extremely rare disorder that belongs to a group of rare genetic disorders known as "Acrocephalopolysyndactyly" (ACPS). All forms of ACPS are characterized by premature closure of the fibrous joints (cranial sutures) between certain bones of the skull (craniosynostosis), causing the top of the head to appear pointed (acrocephaly); webbing or fusion (syndactyly) of certain fingers or toes (digits); and/or more than the normal number of digits (polydactyly). In addition, Sakati syndrome, which is also known as ACPS type III, is associated with abnormalities of bones of the legs, structural heart malformations that are present at birth (congenital heart defects), and/or other findings. Sakati syndrome is thought to be caused by a new genetic change (mutation) that occurs randomly for unknown reasons (sporadically). This mutation is inherited as an autosomal dominant trait.


In Sakati syndrome, the fibrous joints between the bones in the skull (cranial sutures) close prematurely (craniosynostosis), causing an affected infant's head to grow upward at an accelerated rate. As a result, the head appears long, narrow, and pointed at the top (acrocephaly). Affected individuals also have several unusual facial characteristics including a flat, abnormally small face; protruding eyes; an abnormally wide space between the eyes (ocular hypertelorism); an elongated nose; large, malformed (dysplastic) and low-set ears; and a prominent forehead.

Sakati syndrome is also characterized by several deformities of the hands and feet, including abnormally short fingers (brachydactyly), unusually broad thumbs and big toes, webbed toes (syndactyly), and more than the normal number of fingers and/or toes (polydactyly). Abnormalities of the legs are also present, including bowed thigh bones (femurs); abnormally shaped, displaced calf bones (fibulas); and underdeveloped shin bones (hypoplastic tibias). In addition, both the legs and arms are shorter than normal.

Additional symptoms associated with this disorder may include teeth that are crowded together, an underdeveloped upper jaw bone (maxillary hypoplasia), jaws that project forward (prognathism), a short neck, a low hairline, absence of hair (alopecia), and congenital heart disease. Intelligence is usually within normal limits.


The exact cause of Sakati syndrome is not fully understood. It is believed that the syndrome may be caused by a new or sporadic, dominant genetic change (mutation). Although the exact reason for such a mutation remains unclear, some researchers suggest that advanced parental age may be a contributing factor.

If a person with Sakati syndrome were to have children, the altered gene for the disorder may be transmitted as an autosomal dominant trait. Genetic diseases are determined by two genes, one received from the father and one from the mother.

Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.

Affected Populations

Sakati syndrome is named after the researcher (N. Sakati) who, along with colleagues, originally described the condition in 1971. They reported the disease entity in a single male child of a couple who were of advanced parental age. This apparently remains the only case reported in the medical literature to date.

Standard Therapies


Sakati syndrome can be detected at birth, based upon a clinical evaluation and identification of characteristic physical findings.


Treatment primarily consists of surgical correction of malformations. Early craniofacial surgery may be performed to correct the premature closure of the bones in the skull (craniosynostosis) and. Additional craniofacial surgery may be done later in life as well as surgery to correct deformities of the hands and feet. In addition, surgical repair of the bone abnormalities of the legs may also be performed to improve the affected individuals' ability to walk.

Infants with Sakati syndrome who have congenital heart defects may also be treated surgically. The surgical procedure performed will depend upon the severity and location of the heart defects and their associated symptoms.

Other treatment is symptomatic and supportive. Genetic counseling will be of benefit for affected individuals and their families.

Investigational Therapies

Information on current clinical trials is posted on the Internet at All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222

TTY: (866) 411-1010


For information about clinical trials sponsored by private sources, contact:



Gorlin RJ, Cohen MMJr, Hennekam RCM. Eds. Syndromes of the Head and Neck. 4th ed. Oxford University Press, New York, NY; 2001:694.

Buyse ML. Birth Defects Encyclopedia. Dover, MA: Blackwell Scientific Publications, Inc.; 1990:36-37, 460-61.


Jamil MN, Bannister CM, Ward G. Carpenter's syndrome (acrocephalopolysyndactyly type II) with normal intelligence. Br J Neurosurg. 1992;6:243-47.

Gershoni-Baruch R. Carpenter syndrome: marked variability of expression to include the Summitt and Goodman syndromes. Am J Med Genet. 1990;35:236-40.

Cohen DM, Green JG, Miller J, Gorlin RJ, Reed JA. Acrocephalopolysyndactyly type II--Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summitt syndromes. Am J Med Genet. 1987;28:311-24.

Goodman RM, Sternberg M, Shem-Tov Y, et al. Acrocephalopolysyndactyly type IV: a new genetic syndrome in 3 sibs. Clin Genet. 1979;15:209-14.

Sakati N, Nyhan WL, Tisdale WK. A new syndrome with acrocephalopolydactyly, cardiac disease, and distinctive defects of the ear, skin and lower limbs. J Pediat. 1971;79:104-09.


Online Mendelian Inheritance in Man, OMIM (TM). John Hopkins University, Baltimore, MD. MIM Number 101120; 3/11/94. Available at:

Online Mendelian Inheritance in Man, OMIM (TM). John Hopkins University, Baltimore, MD. MIM Number 201000; 8/4/96. Available at:

Online Mendelian Inheritance in Man, OMIM (TM). John Hopkins University, Baltimore, MD. MIM Number 272350; 3/12/94. Available at:

Online Mendelian Inheritance in Man, OMIM (TM). John Hopkins University, Baltimore, MD. MIM Number 201020; 11/12/95. Available at:


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For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see