| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (63.5%) |
17506096 |
Fortuitous FISH diagnosis of an interstitial microdeletion (5)(q31.1q31.2) in a girl suspected to present a cri-du-chat syndrome. Mosca AL, Callier P, Leheup B, Marle N, Jalloul M, Coffinet L, Feillet F, Valduga M, Jonveaux P, Mugneret F. Am J Med Genet A. 2007;143A(12):1342-7. |
| Microretrognathia Upslanted palpebral fissure | ||
| Chromosome Deletion Chromosomes, Human, Pair 5 Cri-du-Chat Syndrome Cytogenetic Analysis Females Fluorescent in Situ Hybridization Homo sapiens Infant Phenotype | ||
| 1 (63.5%) |
8494029 |
Molecular characterization of a complex translocation in a newborn infant. Verma RS, Conte RA, Macera MJ, Khan AS, Hebi S, Masoud AA, al Zaman A, al Bader M. Am J Med Genet. 1993;46(1):104-8. |
| Micrognathia Slanting of the palpebral fissure | ||
| Adult Chromosome Banding Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 11 Chromosomes, Human, Pair 5 Failure to Thrive Females Fetal Growth Retardation Fluorescent in Situ Hybridization Homo sapiens Infant, Newborn Infant, Premature, Diseases Intellectual Disability Polyhydramnios Pregnancy Ultrasonography, Prenatal | ||
| 1 (63.5%) |
7422065 |
[A case of "cri-du-chat" syndrome with meningomyelocele (author's transl)]. Mita R, Moriyama T, Sekiya T, Takebe Y. No Shinkei Geka. 1980;8(8):761-5. |
| Epicanthus Micrognathia | ||
| Chromosomes, Human, 4-5 Cri-du-Chat Syndrome Females Homo sapiens Infant Meningomyelocele | ||
| 1 (63.5%) |
1002156 |
Partial monosomy 22 as the result of an unbalanced translocation 5:22 in a patient with cri-du-chat syndrome. Silengo MC, Andria G. Hum Genet. 1976;34(3):319-22. |
| Epicanthus Micrognathia | ||
| Aneuploidy Child, Preschool Chromosome Aberrations Chromosomes, Human, 21-22 and Y Chromosomes, Human, 4-5 Cri-du-Chat Syndrome Homo sapiens Male Phenotype | ||
| 5 (61.1%) |
8135287 |
Two sibs with different phenotypes due to adjacent-1 segregation of a subtle translocation t(4;5)(p16.3;p15.3)mat. Qumsiyeh MB, Stevens CA. Am J Med Genet. 1993;47(3):387-91. |
| Narrow palate 11 pairs of ribs Long fingers | ||
| |DEL||5 | ||
| Chromosome Aberrations Chromosomes, Human, Pair 4 Chromosomes, Human, Pair 5 DNA Probes DNA, Satellite Females Fluorescent in Situ Hybridization Homo sapiens Infant Intellectual Disability Male Multigene Family Phenotype Sequence Deletion Syndrome | ||
| 6 (59.0%) |
27590389 |
Prenatal diagnosis of partial monosomy 5p (5p15.1→pter) and partial trisomy 7p (7p15.2→pter) associated with cystic hygroma, abnormal skull development, and ventriculomegaly. Chen CP, Wang LK, Chern SR, Wu PS, Ko K, Chen YN, Chen SW, Lee MS, Wang W. Taiwan J Obstet Gynecol. 2016;55(4):591-5. |
| Micrognathia Prominent forehead | ||
| Adult Amniocentesis Chromosomes, Human, Pair 7 Cri-du-Chat Syndrome Females Fetal Diseases Homo sapiens Hydrocephalus Hydrops Fetalis Lymphangioma, Cystic Trisomy | ||
| 6 (59.0%) |
14755410 |
Prenatal diagnosis of mosaic distal 5p deletion and review of the literature. Chen CP, Lee CC, Chang TY, Town DD, Wang W. Prenat Diagn. 2004;24(1):50-7. |
| Triangular face Micrognathia | ||
| Adult Amniocentesis Differential Diagnosis Females Homo sapiens Maternal Age Microcephaly Mosaicism Pregnancy Pregnancy Trimester, Second Ultrasonography, Prenatal | ||
| 6 (59.0%) |
10678657 |
Cri du chat syndrome: changing phenotype in older patients. Van Buggenhout GJ, Pijkels E, Holvoet M, Schaap C, Hamel BC, Fryns JP. Am J Med Genet. 2000;90(3):203-15. |
| Long face Micrognathia | ||
| Adult Chromosome Mapping Chromosomes, Human, Pair 5 Cri-du-Chat Syndrome Facies Females Genotype Homo sapiens Male Middle Aged Phenotype | ||
| 6 (59.0%) |
2677233 |
[The cat cry (cri du chat) syndrome: report of a case with review of 10 cases at the National Taiwan University Hospital]. Chuang SM, Wang TR, Jean HH, Lee FY. Taiwan Yi Xue Hui Za Zhi. 1989;88(6):635-8, 628-9. |
| Round face Micrognathia | ||
| Chromosome Aberrations Cri-du-Chat Syndrome Homo sapiens Infant, Newborn Male | ||
| 10 (57.8%) |
25005318 |
[Accidental finding of a cri du chat syndrome in an adult patient by means of array-CGH]. Ferreiros-Martinez R, Lopez-Manzanares L, Alonso-Cerezo C. Rev Neurol. 2014;59(2):71-6. |
| Microcephaly Micrognathia | ||
| TERT | ||
| Adult Bipolar Disorder Brain Cataract Cerebellar Ataxia Chromosome Deletion Chromosomes, Human, Pair 5 Cognition Disorders Cri-du-Chat Syndrome Delayed Diagnosis Dysarthria Females Homo sapiens Incidental Findings Male Middle Aged Phenotype |
Total: 27
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0000286 | Epicanthus | Very frequent (99-80%) |
| HP:0000308 | Microretrognathia | Very frequent (99-80%) |
| HP:0000311 | Round face | Very frequent (99-80%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Very frequent (99-80%) |
| HP:0000431 | Wide nasal bridge | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0001608 | Abnormality of the voice | Very frequent (99-80%) |
| HP:0001620 | High pitched voice | Very frequent (99-80%) |
| HP:0010864 | Intellectual disability, severe | Very frequent (99-80%) |
| HP:0011344 | Severe global developmental delay | Very frequent (99-80%) |
| HP:0200046 | Cat cry | Very frequent (99-80%) |
| HP:0000218 | High palate | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000470 | Short neck | Frequent (79-30%) |
| HP:0000494 | Downslanted palpebral fissures | Frequent (79-30%) |
| HP:0001511 | Intrauterine growth retardation | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0200055 | Small hand | Frequent (79-30%) |
| HP:0000023 | Inguinal hernia | Occasional (29-5%) |
| HP:0000384 | Preauricular skin tag | Occasional (29-5%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Occasional (29-5%) |
| HP:0002757 | Recurrent fractures | Occasional (29-5%) |
| HP:0004348 | Abnormality of bone mineral density | Occasional (29-5%) |
| HP:0005692 | Joint hyperflexibility | Occasional (29-5%) |
| HP:0006101 | Finger syndactyly | Occasional (29-5%) |
Total: 40
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000252 | Microcephaly | 7 |
| HP:0000316 | Hypertelorism | 4 |
| HP:0001249 | Intellectual disability | 3 |
| HP:0025356 | Psychomotor retardation | 3 |
| HP:0000347 | Micrognathia | 2 |
| HP:0002119 | Ventriculomegaly | 2 |
| HP:0200046 | Cat cry | 2 |
| HP:0000023 | Inguinal hernia | 1 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000286 | Epicanthus | 1 |
| HP:0000311 | Round face | 1 |
| HP:0000369 | Low-set ears | 1 |
| HP:0000470 | Short neck | 1 |
| HP:0000476 | Cystic hygroma | 1 |
| HP:0000518 | Cataract | 1 |
| HP:0000526 | Aniridia | 1 |
| HP:0000609 | Optic nerve hypoplasia | 1 |
| HP:0001156 | Brachydactyly | 1 |
| HP:0001166 | Arachnodactyly | 1 |
| HP:0001319 | Neonatal hypotonia | 1 |
| HP:0001320 | Cerebellar vermis hypoplasia | 1 |
| HP:0001510 | Growth delay | 1 |
| HP:0001612 | Weak cry | 1 |
| HP:0001643 | Patent ductus arteriosus | 1 |
| HP:0001791 | Fetal ascites | 1 |
| HP:0002015 | Dysphagia | 1 |
| HP:0002084 | Encephalocele | 1 |
| HP:0002414 | Spina bifida | 1 |
| HP:0002521 | Hypsarrhythmia | 1 |
| HP:0002650 | Scoliosis | 1 |
| HP:0002748 | Rickets | 1 |
| HP:0007957 | Corneal opacity | 1 |
| HP:0008288 | Nonketotic hyperglycinemia | 1 |
| HP:0011426 | Fetal choroid plexus cysts | 1 |
| HP:0025429 | Abnormal cry | 1 |
| HP:0025430 | High-pitched cry | 1 |
| HP:0030048 | Colpocephaly | 1 |
| HP:0030961 | Microspherophakia | 1 |
| HP:0100753 | Schizophrenia | 1 |
| HP:0200006 | Slanting of the palpebral fissure | 1 |