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syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"OMIM:219000","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"fec54341bcdf5a6658d6611308d17f9986c0f3feaa7cee37ef1af738b35406ae","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:2052","disease_name":"Fraser syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000202","is_excluded":false,"label":"Orofacial cleft","onset_id":null,"reference":"ORPHA:2052","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/fraser-syndrome\">Fraser 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>Genetic changes that cause disease are called pathogenic variants. Pathogenic variants in the FRAS1, FREM2, or GRIP1 genes can cause Fraser syndrome. FRAS1 gene variants are the most common cause of Fraser syndrome. FREM2 and GRIP1 gene variants are each responsible for a small percentage of cases.</p><p>The proteins that are produced from the FRAS1 and FREM2 genes are part of a group of proteins called the FRAS/FREM complex. The protein that is produced from the GRIP1 gene ensures that the FRAS1 and FREM2 proteins get to the correct location to form the FRAS/FREM complex.</p><p>The FRAS/FREM complex is found in basement membranes, which are thin, sheet-like structures that separate and support the cells in many tissues. One of the roles of the FRAS/FREM complex is to anchor the basement membrane of the top layer of skin to the layer of skin below. The FRAS/FREM complex is also involved in the proper organization and development of certain organs and tissues, including the kidneys.</p><p>The pathogenic variants in the FRAS1, FREM2, or GRIP1 genes that cause Fraser syndrome interfere with the proper formation of the FRAS/FREM complex. This disrupts the connection between tissue layers, including the connection between the top layer of skin and the layer of skin underneath. Disrupting the interactions between tissue layers impairs cellular movement and communication during early development, which can lead to the cryptophthalmos and cutaneous syndactyly seen in affected individuals.</p><p>Through a mechanism that is not well understood, the pathogenic variants that cause Fraser syndrome appear to interfere with the self-destruction of cells that are no longer needed (apoptosis), which may contribute to the additional abnormalities seen in people with Fraser syndrome.</p><p>In some people with Fraser syndrome, a pathogenic variant cannot be identified. In these cases, the cause of the disorder is unknown.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/fraser-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Fraser syndrome?"},{"bodyHtml":"<p>Cryptophthalmos is the most common abnormality in people with Fraser syndrome. Both eyes are usually completely covered by skin, but in some cases, only one eye is covered or one or both eyes are partially covered. In cryptophthalmos, the eyes can also be malformed; for example, the eyeballs may be fused to the skin covering them, or they may be small (microphthalmia) or missing (anophthalmia). Eye abnormalities typically lead to impairment or loss of vision in people with Fraser syndrome. Affected individuals can have other problems related to abnormal eye development, including missing eyebrows or eyelashes or a patch of hair extending from the side hairline to the eyebrow.</p><p>Cutaneous syndactyly typically occurs in both the hands and the feet in Fraser syndrome. In most people with this feature, the skin between the middle three fingers and toes are fused, but the other digits can also be involved. Other abnormalities of the hands and feet can occur in people with Fraser syndrome.</p><p>Individuals with Fraser syndrome can have abnormalities of the genitalia, such as an enlarged clitoris in females or undescended testes (cryptorchidism) in males. Some affected individuals have external genitalia that do not appear clearly female or male.</p><p>The most common urinary tract abnormality in Fraser syndrome is the absence of one or both kidneys (renal agenesis). Affected individuals can have other kidney problems or abnormalities of the bladder and other parts of the urinary tract.</p><p>A variety of other signs and symptoms can be involved in Fraser syndrome, including heart malformations or abnormalities of the voicebox (larynx) or other parts of the respiratory tract. Some affected individuals have facial abnormalities, including ear or nose abnormalities or an opening in the upper lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate).</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/fraser-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"fraser-syndrome","sourceDocuments":[{"name":"Fraser syndrome","reviewed":"2014-06","sections":{"causes":{"fetchedAt":"2026-10-20T20:21:36.288563+00:00","label":"Causes","pageSha256":"4a000fd14eed6319b636cfb6df90e1e308b54714af684e7c80c9909ce7bbe904","sourceUrl":"https://medlineplus.gov/genetics/condition/fraser-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/fraser-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":"Fraser syndrome"},"schemaVersion":1}