Stuve-Wiedemann Syndrome

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Disorder Subdivisions

  • None

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.

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

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

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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.


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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