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condition characterized by permanent muscle stiffness (myotonia) and bone abnormalities known as chondrodysplasia. The signs and symptoms of this condition become apparent sometime after birth, usually in early childhood. Either muscle stiffness or chondrodysplasia can appear first. The muscle and bone abnormalities worsen in childhood, although most affected individuals have a normal lifespan. The specific features of Schwartz-Jampel syndrome vary widely.","mondoId":"MONDO:0009717","records":[{"frequencyKind":"count","key":"00f39a99bc132db14ed825fa6a7c76d85d47fe992af6c9987086ac8858a4aa70","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:255800","disease_name":"Schwartz-jampel syndrome, type 1","evidence":"PCS","frequency_raw":"2/3","hpo_id":"HP:0003202","is_excluded":false,"label":"Skeletal muscle atrophy","onset_id":null,"reference":"PMID:11941538","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"0402b47e5e767c90b3fbcc2f23d726c58a003edfc57665edb59b8a316ae955fe","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:255800","disease_name":"Schwartz-jampel syndrome, type 1","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0002515","is_excluded":false,"label":"Waddling 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activity","onset_id":null,"reference":"ORPHA:800","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"ffcd732054ceb4ba3a04f3b31c21bce7e92c9b6e1382e5dbc3ef7e68f8128aae","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:601559","disease_name":"Stuve-Wiedemann syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0004964","is_excluded":false,"label":"Pulmonary arterial medial hypertrophy","onset_id":null,"reference":"OMIM:601559","source_release":"2026-06-23"},"sourceGroups":["omim"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/schwartz-jampel-syndrome\">Schwartz-Jampel syndrome</a></li><li><a href=\"https://medlineplus.gov/genetics/condition/stuve-wiedemann-syndrome\">Stüve-Wiedemann syndrome</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Schwartz-Jampel syndrome is caused by mutations in the HSPG2 gene. This gene provides instructions for making a protein known as perlecan. This protein is found in the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells. Specifically, it is found in part of the extracellular matrix called the basement membrane, which is a thin, sheet-like structure that separates and supports cells in many tissues. Perlecan is also found in cartilage, a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears.</p><p>Perlecan has multiple functions, including cell signaling and the normal maintenance of basement membranes and cartilage. The protein also plays a critical role at the neuromuscular junction, which is the area between the ends of nerve cells and muscle cells where signals are relayed to trigger muscle contraction.</p><p>The mutations that cause Schwartz-Jampel syndrome reduce the amount of perlecan that is produced or lead to a version of perlecan that is only partially functional. A reduction in the amount or function of this protein disrupts the normal development of cartilage and bone tissue, which underlies chondrodysplasia in affected individuals. A reduced amount of functional perlecan at the neuromuscular junction likely alters the balance of other molecules that signal when muscles should contract and when they should relax. As a result, muscle contraction is triggered continuously, leading to myotonia.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/schwartz-jampel-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Schwartz-Jampel syndrome?"},{"bodyHtml":"<p>Myotonia involves continuous tensing (contraction) of muscles used for movement (skeletal muscles) throughout the body. This sustained muscle contraction causes stiffness that interferes with eating, sitting, walking, and other movements. Sustained contraction of muscles in the face leads to a fixed, &quot;mask-like&quot; facial expression with narrow eye openings (blepharophimosis) and pursed lips. This facial appearance is very specific to Schwartz-Jampel syndrome. Affected individuals may also be nearsighted and experience abnormal blinking or spasms of the eyelids (blepharospasm).</p><p>Chondrodysplasia affects the development of the skeleton, particularly the long bones in the arms and legs and the bones of the hips. These bones are shortened and unusually wide at the ends, so affected individuals have short stature. The long bones may also be abnormally curved (bowed). Other bone abnormalities associated with Schwartz-Jampel syndrome include a protruding chest (pectus carinatum), abnormal curvature of the spine, flattened bones of the spine (platyspondyly), and joint abnormalities called contractures that further restrict movement.</p><p>Researchers originally described two types of Schwartz-Jampel syndrome. Type 1 has the signs and symptoms described above, while type 2 has more severe bone abnormalities and other health problems and is usually life-threatening in early infancy. Researchers have since discovered that the condition they thought was Schwartz-Jampel syndrome type 2 is actually part of another disorder, Stüve-Wiedemann syndrome, which is caused by mutations in a different gene. They have recommended that the designation Schwartz-Jampel syndrome type 2 no longer be used.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/schwartz-jampel-syndrome\">MedlinePlus Genetics</a></p><details class=\"deep-dive\"><summary>Stüve-Wiedemann syndrome</summary><p>Stüve-Wiedemann syndrome is a severe condition characterized by bone abnormalities and dysfunction of the autonomic nervous system, which controls involuntary body processes such as the regulation of breathing rate and body temperature. The condition is apparent from birth, and its key features include abnormal curvature (bowing) of the long bones in the legs, difficulty feeding and swallowing, and episodes of dangerously high body temperature (hyperthermia).</p><p>In addition to bowed legs, affected infants can have bowed arms, permanently bent fingers and toes (camptodactyly), and joint deformities (contractures) in the elbows and knees that restrict their movement. Other features include abnormalities of the pelvic bones (the ilia) and reduced bone mineral density (osteopenia).</p><p>In infants with Stüve-Wiedemann syndrome, dysfunction of the autonomic nervous system typically leads to difficulty feeding and swallowing, breathing problems, and episodes of hyperthermia. Affected infants may also sweat excessively, even when the body temperature is not elevated, or have a reduced ability to feel pain. Many babies with this condition do not survive past infancy because of the problems regulating breathing and body temperature; however, some people with Stüve-Wiedemann syndrome live into adolescence or later.</p><p>Problems with breathing and swallowing usually improve in affected children who survive infancy; however, they still have difficulty regulating body temperature. In addition, the leg bowing worsens, and children with Stüve-Wiedemann syndrome may develop prominent joints, an abnormal curvature of the spine (scoliosis), and spontaneous bone fractures. Some affected individuals have a smooth tongue that lacks the bumps that house taste buds (fungiform papillae). Affected children may also lose certain reflexes, particularly the reflex to blink when something touches the eye (corneal reflex) and the knee-jerk reflex (patellar reflex).</p><p>Another condition once known as Schwartz-Jampel syndrome type 2 is now considered to be part of Stüve-Wiedemann syndrome. Researchers have recommended that the designation Schwartz-Jampel syndrome type 2 no longer be used.</p><h3>Causes</h3><p>Stüve-Wiedemann syndrome is usually caused by mutations in the LIFR gene. This gene provides instructions for making a protein called leukemia inhibitory factor receptor (LIFR). Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Together, ligands and their receptors trigger signals that affect cell development and function.</p><p>The LIFR protein acts as a receptor for a ligand known as leukemia inhibitory factor (LIF). LIFR signaling can control several cellular processes, including growth and division (proliferation), maturation (differentiation), and survival. First found to be important in blocking (inhibiting) growth of blood cancer (leukemia) cells, this signaling is also involved in the formation of bone and the development of nerve cells. It appears to play an important role in normal development and functioning of the autonomic nervous system.</p><p>Most LIFR gene mutations that cause Stüve-Wiedemann syndrome prevent production of any LIFR protein. Other mutations lead to production of an altered protein that likely cannot function. Without functional LIFR, signaling is impaired. The lack of LIFR signaling disrupts normal bone formation, leading to osteopenia, bowed legs, and other skeletal problems common in Stüve-Wiedemann syndrome. In addition, development of nerve cells, particularly those involved in the autonomic nervous system, is abnormal, leading to the problems with breathing, feeding, and regulating body temperature characteristic of this condition.</p><p>A small number of people with Stüve-Wiedemann syndrome do not have an identified mutation in the LIFR gene. Researchers suggest that other genes that have not been identified may be involved in this condition.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/stuve-wiedemann-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/stuve-wiedemann-syndrome\">MedlinePlus: Stüve-Wiedemann syndrome</a></p></details>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"schwartz-jampel-syndrome","sourceDocuments":[{"name":"Schwartz-Jampel syndrome","reviewed":"2016-04","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:53.865442+00:00","label":"Causes","pageSha256":"f2d1abcf818ab986e57f70c0342f9e86ed0c20ab8d3142c544f1caae08697e9d","sourceUrl":"https://medlineplus.gov/genetics/condition/schwartz-jampel-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/schwartz-jampel-syndrome"},{"name":"Stüve-Wiedemann syndrome","reviewed":"2016-04","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:19.069468+00:00","label":"Causes","pageSha256":"196c7d3086027e88f9cb58fde1a7009b006501e7c86eb3efa9597dccb448b3d1","sourceUrl":"https://medlineplus.gov/genetics/condition/stuve-wiedemann-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/stuve-wiedemann-syndrome"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Schwartz-Jampel syndrome"},"schemaVersion":1}