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Stuve-Wiedemann Syndrome

Synonyms of Stuve-Wiedemann Syndrome

  • No synonyms found.

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Stuve-Wiedemann syndrome is rare skeletal disorder present at birth (congenital). It is characterized by short stature, bowing of the long bones of the arms and legs (campomelia), and fingers or toes that are permanently flexed (camptodactyly) outward away from the thumb (ulnar deviation). Affected infants may develop life-threatening complications such as episodes where there is a sudden rise in body temperature (hyperthermia) or respiratory distress. Stuve-Wiedemann syndrome is inherited as an autosomal recessive trait.

Some researchers believe that Stuve-Wiedemann syndrome and Schwartz-Jampel syndrome (SJS) type II are the same disorder. SJS was previously believed to be the newborn (neonatal) form of SJS. However, the clinical and radiographic pictures of Stuve-Wiedemann and SJS type II are nearly identical leading many researchers to believe the two disorders are a single entity. Radiographic pictures are records of internal structures of the body made from the use of x-rays or gamma rays.

In the past, Stuve-Wiedemann syndrome was thought to be a lethal condition in all cases. Today, there are reports in the literature describing patients who survive.


The symptoms of Stuve-Wiedemann syndrome vary from case to case. Most infants develop characteristic skeletal abnormalities including fingers or toes that are permanently flexed (camptodactyly) outward away from the thumb (ulnar deviation) and bowing of the long bones of the arms and legs (camptomelia), which results in short stature. Affected infants may also have underdeveloped muscle tone (hypotonia) and/or an elbow that is permanently fixed in a bent or flexed position (elbow contracture). Some individuals with Stuve-Wiedemann have had distinctive facial features, incluring small chins (micrognathia) and small mouths.

Some infants with Stuve-Wiedemann syndrome may develop episodes where they repeatedly stop breathing during sleep (apnea). Feeding and swallowing difficulties may also occur. In some cases, life-threatening complications may develop early during infancy including respiratory distress and repeated episodes where there is a sudden rise in body temperature (hyperthermia).

The specific clinical picture of Stuve-Wiedemann syndrome is unclear because of the small number of cases reported in the medical literature. In some cases, as affected individuals age, they develop symptoms similar to those associated with dysautonomia. (For more information on dysautonomia, see the Related Disorders section below). These symptoms may include diminished sensitivity to pain, absence of the knob-like projections that cover the tongue (fungiform papillae), excessive sweating at low temperatures, absent corneal reflexes, multiple fractures, and spinal abnormalities.

Additional findings have been reported in some cases of Stuve-Wiedemann syndrome including high blood pressure of the main artery of the lungs (pulmonary hypertension), liver (hepatic) failure, and a form of clubfoot in which the heel is turned outward away from the midline of the leg (talipes valgus). It is not known whether these are characteristic findings of Stuve-Wiedemann syndrome or coincidental findings. As Stuve-Wiedemann becomes better recognized, more cases will be identified allowing for a clearer clinical picture to emerge.


Stuve-Wiedemann is inherited as an autosomal recessive trait. Genetic diseases are determined by two genes, one received from the father and one from the mother.

Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%.

Some individuals with Stuve-Wiedemann syndrome have had parents who were related by blood (consanguineous). All individuals carry 4-5 abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.

Affected Populations

Stuve-Wiedemann syndrome affects males and females in equal numbers. More than 30 cases have been reported in the medical literature. However many researchers believe that cases previously diagnosed as Schwartz-Jampel syndrome type II may be the same disorder as Stuve-Wiedemann syndrome. Additionally, cases of Stuve-Wiedemann syndrome often go unrecognized making it difficult to determine the true frequency of the disorder in the general population. Stuve-Wiedemann syndrome was first described in the medical literature in 1971.

Related Disorders

Symptoms of the following disorders can be similar to those of Stuve-Wiedemann syndrome. Comparisons may be useful for a differential diagnosis:

Schwartz-Jampel syndrome is a rare genetic disorder characterized by abnormalities of the skeletal muscles, including muscle weakness and stiffness (myotonic myopathy); abnormal bone development (bone dysplasia); permanent bending or extension of certain joints in a fixed position (joint contractures); and/or growth delays resulting in abnormally short stature (dwarfism). Affected individuals may also have small, fixed facial features and various abnormalities of the eyes, some of which may cause impaired vision. The range and severity of symptoms may vary from case to case. Two types of the disorder have been identified that may be differentiated by age of onset and other factors. Schwartz-Jampel syndrome type 1, which is considered the classical form of the disorder, may become apparent during early to late infancy or childhood. Schwartz-Jampel syndrome type 2, a more rare form of the disorder, is typically recognized at birth (congenital. Many researchers now believe that Schwartz-Jampel syndrome type 2 and Stuve-Wiedemann syndrome are the same disorder. (For more information on this disorder, choose "Schwartz-Jampel" as your search term in the Rare Disease Database.)

Campomelic dysplasia is a rare congenital skeletal disorder characterized by short stature along with bowing and an unusual angular shape of the long bones of the legs. The bones of the shoulders and pelvic area are often abnormal. Affected individuals may have 11 pairs of ribs instead of the usual 12. There are two forms of this disorder, the long-limbed form and the short-limbed form. Additional symptoms of campomelic dysplasia include characteristic facial features, congenital heart defects, and severe respiratory distress. Campomelic dysplasia is inherited as an autosomal dominant trait. (For more information on this disorder, choose "Campomelic" as your search term in the Rare Disease Database.)

Kyphomelic dysplasia is a rare genetic skeletal disorder characterized by bowing of the long bones of the arms and legs that is present at birth (congenital), resulting in short stature. The thighbone (femur) is most often affected. In some cases, affected infants may have an abnormally small jaw (micrognathia) and cleft palate and cleft lip. Affected infants may also have a narrow chest and short ribs. Kyphomelic dysplasia is inherited as an autosomal recessive trait.

Familial dysautonomia is a rare genetic disorder of the autonomic nervous system (ANS) that primarily affects people of Eastern European Jewish heritage. It is characterized by diminished sensitivity to pain, lack of overflow tearing in the eyes, a decrease in the number of knob-like projections that cover the tongue (fungiform papillae), unusual fluctuations of body temperature, and unstable blood pressure. Symptoms of this disorder are apparent at birth. The autonomic nervous system controls vital involuntary body functions. Familial dysautonomia is inherited as an autosomal recessive trait. (For more information on this disorder, choose "dysautonomia" as your search term in the Rare Disease Database.)

Standard Therapies

A diagnosis of Stuve-Wiedemann syndrome may be suspected based upon a thorough clinical evaluation, a detailed patient history, identification of characteristic findings (e.g., congenital bowing of the long bones) and a variety of specialized tests. At least one case of Stuve-Wiedemann syndrome was diagnosed before birth (prenatally) by fetal ultrasound. In fetal ultrasound, sound waves are used to create an image of the developing fetus.

The treatment of Stuve-Wiedemann syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians; physicians who diagnose and treat diseases of the eye (ophthalmologists); specialists who diagnose and treat skeletal abnormalities (orthopedists); orthopedic surgeons; physical therapists; and/or other health care professionals may need to work together to ensure a comprehensive approach to treatment.

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

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:

Stuve-Wiedemann Syndrome Resources

Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder.



Raas-Rothschild A, et al. Cardiovascular abnormalities associated with Stuve-Wiedemann syndrome. Am J Med Genet. 2003;121A:156-8.

Di Rocco M, et al. Long-term survival in Stuve-Wiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomia. Am J Med Genet. 2003;118A:362-8.

Al-Gazali LI, et al. Stuve-Wiedemann syndrome in children surviving infancy: clinical and radiological features. Clin Dysmorphol. 2003;12:1-8.

Farra C, et al. Congenital bowing of long bones: prenatal ultrasound findings and diagnostic dilemmas. Fetal Diagn Ther. 2002;17:236-9.

Chen E, et al. Characteristic of a long-term survivor with Stuve-Wiedemann syndrome and mosaicism of a supernumerary marker chromosome. Am J Med Genet. 2001;101:240-5.

Sigaudy S, et al. Congenital bowing of the long bones in two fetuses presenting features of Stuve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2. Clin Dysmorphol. 1998;7:257-62.

Cormier-Daire V, et al. Presentation of six cases of Stuve-Wiedemann syndrome. Pediatr Radiol. 1998;28:776-80.

Superti-Furga A, et al. Schwartz-Jampel syndrome type 2 and Stuve-Wiedemann syndrome: case for "lumping". Am J Med Genet. 1998;78:150-4.

Cormier-Daire V, et al. Clinical homogeneity of the Stuve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2. Am J Med Genet. 1998;78:146-9.

Chabrol B, et al. Stuve-Wiedemann syndrome and defects of the mitochondrial respiratory chain. Am J Med Genet. 1997;72:222-6.

Wiedemann HR, Stuve A. Stuve-Wiedemann syndrome: update and historical footnote. Am J Med Genet. 1996;63:12-6.

Philippe HJ, et al. Management of a short femur discovered via ultrasound in utero. Prenatal diagnosis of Stuve-Wiedemann syndrome. J Gynecol Obstet Biol Reprod (Paris). 1993;22:269-74.

Stuve A, Wiedemann HR. Congenital bowing of the long bones in two sisters. Lancet. 1971;2:495.

McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No:601559; Last Update:8/10/2001.

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

Report last updated: 2008/05/25 00:00:00 GMT+0

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