The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health. Jacobsen syndrome. From Genetics Home Reference. Description Jacobsen syndrome is a condition caused by a loss of genetic material from chromosome Frequency The estimated incidence of Jacobsen syndrome is 1 in , newborns. Causes Jacobsen syndrome is caused by a deletion of genetic material at the end of the long q arm of chromosome Inheritance Most cases of Jacobsen syndrome are not inherited.
Other Names for This Condition 11q deletion disorder 11q deletion syndrome 11q terminal deletion disorder 11q- deletion syndrome 11q23 deletion disorder Jacobsen thrombocytopenia. Research Studies from ClinicalTrials. Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q.
Genet Med. Epub Jul Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder Jacobsen syndrome.
Epub Oct Jacobsen syndrome: Advances in our knowledge of phenotype and genotype. Epub Aug The 11q terminal deletion disorder: a prospective study of cases. Am J Med Genet A. Orphanet J Rare Dis. Clinical and molecular characterization of patients with distal 11q deletions. Mental retardation. Mental retardation, nonspecific. Low platelet count. Nasal tip, upturned. Upturned nasal tip. Upturned nose. Upturned nostrils. Absence of eyebrow. Lack of eyebrow. Missing eyebrow. Attention deficit.
Attention deficit disorder. Attention deficit-hyperactivity disorder. Attention deficits. Broad bone of big toe. Wide bone of big toe. Undescended testes. Undescended testis.
Downward slanting of the opening between the eyelids. Eye folds. Prominent eye folds. Asymmetry of face. Crooked face. Unsymmetrical face. Wide-set eyes. Widely spaced eyes. Long big toe. Increased size of skull.
Large head. Large head circumference. Cornea of eye less than 10mm in diameter. Absent ribs. Decreased rib number. Flat feet. Flat foot. Premature delivery of affected infants. Preterm delivery. Drooping upper eyelid. Frequent respiratory infections.
Multiple respiratory infections. Susceptibility to respiratory infections. Decreased length of neck. Decreased length of nose. Shortened nose. Decreased body height. Small stature. Short toes. Stubby toes. Squint eyes. Fused toes.
Webbed toes. Hole in heart wall separating two lower heart chambers. Abnormality of the palate. Abnormality of the roof of the mouth.
Narrowing of aortic valve. Bipolar disorder. Clouding of the lens of the eye. Cloudy lens. Degeneration of cerebrum. Narrowing of aorta. Narrowing of the aorta. Infantile death. Lethal in infancy. Absence or narrowing of first part of small bowel. Abnormal anus position. Eyelid turned out. Cleft eyelid. Notched eyelid. Extra finger. Dislocated hips. Dislocation of hip. Underdeveloped left heart.
Prenatal growth deficiency. Prenatal growth retardation. Cat eye. Fewer and broader ridges in brain. Triangular skull shape. Wedge shaped skull. Neck webbing. Broad nasal bridge. Broad nasal root. Broadened nasal bridge. Increased breadth of bridge of nose. Increased breadth of nasal bridge. Increased width of bridge of nose. Increased width of nasal bridge. Nasal bridge broad. Wide bridge of nose. Widened nasal bridge. Abnormal eyelashes. Abnormality of the eyelashes.
Eyelash abnormality. Lazy eye. Wandering eye. An opening in the wall separating the top two chambers of the heart. Hole in heart wall separating two upper heart chambers. Short fingers or toes. Birth defect that causes a hole in the innermost layer at the back of the eye. Permanent curving of the pinkie finger.
Small clitoris. Disclaimer: This information is for general use only and is not meant to be a substitute for seeking professional care in the diagnosis, treatment and management of this condition. Search for:. Jacobsen syndrome. Information sheet about Jacobsen syndrome Other Names 11q deletion syndrome; 11q deletion disorder; 11q terminal deletion disorder; partial 11q monosomy syndrome; 11q23 deletion disorder; Jacobsen thrombocytopenia; del 11 q Categories Blood diseases; chromosome disorders; congenital and genetic diseases; rare diseases; eye diseases Signs and Symptoms The signs and symptoms of Jacobsen syndrome vary among people but often include: cognitive impairment which can translate to delayed development, including the development of both speech and motor skills and learning difficulties a bleeding disorder called Paris-Trousseau syndrome in which blood clots poorly, causes easy bruising and bleeding and increases the risk of internal bleeding distinctive facial features; the most often reported features include, small and low-set ears, widely set eyes hypertelorism with droopy eyelids ptosis , skin folds covering the inner corner of the eyes epicanthic folds , a broad nasal bridge, downturned corners of the mouth, a thin upper lip, and a small lower jaw, a large head size macrocephaly and a skull abnormality called trigonocephaly, which gives the forehead a pointed appearance behavioural issues, e.
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