15q overgrowth syndrome

A rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly.



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Narrow down the case reports



Total: 3 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(39.0%)		 30861314
 Acute leukemia in a patient with 15q overgrowth syndrome.
Bodle EE, Gupta R, Cherry AM, Muffly L, Manning MA.
Am J Med Genet A. 2019;179(6):1025-1029.
Macrocephaly
FCGR1CP IGF1R
Adult Chromosomes, Human, Pair 15 Facies Females Genetic Association Studies Genetic Predisposition to Disease Growth Disorders Homo sapiens Insulin-Like-Growth Factor I Receptor Neoplasms Signal Transduction Syndrome Trisomy
2
(37.8%)		 20603595
 A girl with 15q overgrowth syndrome and dup(15)(q24q26.3) that included telomeric sequences.
Gutierrez-Franco Mde L, Madariaga-Campos Mde L, Vasquez-Velasquez AI, Matute E, Guevara-Yanez R, Rivera H.
Korean J Lab Med. 2010;30(3):318-24.
Long face Camptodactyly
Chromosome Aberrations Chromosomes, Human, Pair 15 Females Fluorescent in Situ Hybridization Growth Disorders Homo sapiens Intellectual Disability Syndrome
3
(4.0%)		 22030053
 Chromosome 15q overgrowth syndrome: prenatal diagnosis, molecular cytogenetic characterization, and perinatal findings in a fetus with dup(15)(q26.2q26.3).
Chen CP, Lin YH, Au HK, Su YN, Hsu CY, Liu YP, Wu PC, Chern SR, Chen YT, Chen LF, Hsieh AH, Wang W.
Taiwan J Obstet Gynecol. 2011;50(3):359-65.
Overgrowth
IGF1R
Adult Amniocentesis Chromosomal Duplication Chromosomes, Human, Pair 15 Craniosynostosis Differential Diagnosis Facies Females Homo sapiens Pregnancy
        

Phenotype(s) retrieved from Orphanet

    Total: 66

HPO ID Term Frequency
HP:0000085 Horseshoe kidney Very frequent (99-80%)
HP:0000126 Hydronephrosis Very frequent (99-80%)
HP:0000218 High palate Very frequent (99-80%)
HP:0000278 Retrognathia Very frequent (99-80%)
HP:0000280 Coarse facial features Very frequent (99-80%)
HP:0000308 Microretrognathia Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000356 Abnormality of the outer ear Very frequent (99-80%)
HP:0000358 Posteriorly rotated ears Very frequent (99-80%)
HP:0000368 Low-set, posteriorly rotated ears Very frequent (99-80%)
HP:0000369 Low-set ears Very frequent (99-80%)
HP:0000494 Downslanted palpebral fissures Very frequent (99-80%)
HP:0000506 Telecanthus Very frequent (99-80%)
HP:0001166 Arachnodactyly Very frequent (99-80%)
HP:0001270 Motor delay Very frequent (99-80%)
HP:0001319 Neonatal hypotonia Very frequent (99-80%)
HP:0001363 Craniosynostosis Very frequent (99-80%)
HP:0001382 Joint hypermobility Very frequent (99-80%)
HP:0001511 Intrauterine growth retardation Very frequent (99-80%)
HP:0001519 Disproportionate tall stature Very frequent (99-80%)
HP:0001548 Overgrowth Very frequent (99-80%)
HP:0001999 Abnormal facial shape Very frequent (99-80%)
HP:0002705 High, narrow palate Very frequent (99-80%)
HP:0007642 Congenital stationary night blindness Very frequent (99-80%)
HP:0008714 Ureterovesical stenosis Very frequent (99-80%)
HP:0009471 Contracture of the proximal interphalangeal joint of the 3rd finger Very frequent (99-80%)
HP:0009540 Contracture of the proximal interphalangeal joint of the 2nd finger Very frequent (99-80%)
HP:0012210 Abnormal renal morphology Very frequent (99-80%)
HP:0012758 Neurodevelopmental delay Very frequent (99-80%)
HP:0000193 Bifid uvula Occasional (29-5%)
HP:0000238 Hydrocephalus Occasional (29-5%)
HP:0000256 Macrocephaly Occasional (29-5%)
HP:0000262 Turricephaly Occasional (29-5%)
HP:0000268 Dolichocephaly Occasional (29-5%)
HP:0000272 Malar flattening Occasional (29-5%)
HP:0000303 Mandibular prognathia Occasional (29-5%)
HP:0000319 Smooth philtrum Occasional (29-5%)
HP:0000410 Mixed hearing impairment Occasional (29-5%)
HP:0000431 Wide nasal bridge Occasional (29-5%)
HP:0000486 Strabismus Occasional (29-5%)
HP:0000676 Abnormality of the incisor Occasional (29-5%)
HP:0000678 Dental crowding Occasional (29-5%)
HP:0000766 Abnormality of the sternum Occasional (29-5%)
HP:0001176 Large hands Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001274 Agenesis of corpus callosum Occasional (29-5%)
HP:0001305 Dandy-Walker malformation Occasional (29-5%)
HP:0001347 Hyperreflexia Occasional (29-5%)
HP:0001623 Breech presentation Occasional (29-5%)
HP:0001653 Mitral regurgitation Occasional (29-5%)
HP:0001845 Overlapping toe Occasional (29-5%)
HP:0002092 Pulmonary arterial hypertension Occasional (29-5%)
HP:0002315 Headache Occasional (29-5%)
HP:0002564 obsolete Malformation of the heart and great vessels Occasional (29-5%)
HP:0002650 Scoliosis Occasional (29-5%)
HP:0002667 Nephroblastoma Occasional (29-5%)
HP:0003396 Syringomyelia Occasional (29-5%)
HP:0004209 Clinodactyly of the 5th finger Occasional (29-5%)
HP:0005180 Tricuspid regurgitation Occasional (29-5%)
HP:0006143 Abnormal finger flexion creases Occasional (29-5%)
HP:0006610 Wide intermamillary distance Occasional (29-5%)
HP:0008519 Abnormality of the coccyx Occasional (29-5%)
HP:0010653 Abnormality of the falx cerebri Occasional (29-5%)
HP:0012444 Brain atrophy Occasional (29-5%)
HP:0030680 Abnormality of cardiovascular system morphology Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0001548 Overgrowth 2


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID