| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (65.4%) |
8484405 |
Index finger hyperphalangy and multiple anomalies: Catel-Manzke syndrome? Wilson GN, King TE, Brookshire GS. Am J Med Genet. 1993;46(2):176-9. |
| Pierre-Robin sequence Micrognathia Short hallux | ||
| F8 | ||
| Child, Preschool Fingers Genetic Markers Homo sapiens Male Micrognathism Pierre Robin Syndrome Syndrome X Chromosome | ||
| 2 (61.9%) |
3955870 |
Pierre Robin anomaly with an accessory metacarpal of the index fingers. The Catel-Manzke syndrome. Dignan PS, Martin LW, Zenni EJ Jr. Clin Genet. 1986;29(2):168-73. |
| Full cheeks Short toe | ||
| Child, Preschool Cleft Palate Congenital Heart Defects Females Fingers Homo sapiens Metacarpus Syndrome Toes | ||
| 3 (60.5%) |
2314003 |
[Catel-Manzke syndrome]. Bernd L, Martini AK, Schiltenwolf M. Klin Padiatr. 1990;202(1):60-3. |
| Glossoptosis Micrognathia | ||
| Cleft Palate Fingers Homo sapiens Infant Male Micrognathism Pierre Robin Syndrome | ||
| 4 (49.1%) |
28422407 |
Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus. Schoner K, Bald R, Horn D, Rehder H, Kornak U, Ehmke N. Am J Med Genet A. 2017;173(6):1694-1697. |
| Pierre-Robin sequence Clinodactyly | ||
| TGDS | ||
| c|SUB|G|298|T;RS#:140430952 c|SUB|G|895|A p|SUB|A|100|S;RS#:140430952 p|SUB|D|299|N rs140430952 rs754214510 rs764401457 | ||
| Brachydactyly Congenital Hand Deformities Congenital Heart Defects Deafness Females Fetus Fingers Heterozygote Homo sapiens Hydro-Lyases Intellectual Disability Mouth Abnormalities Mutation Pierre Robin Syndrome Pregnancy Tooth Abnormalities | ||
| 4 (49.1%) |
26366375 (4563870) |
Catel-Manzke Syndrome: Further Delineation of the Phenotype Associated with Pathogenic Variants in TGDS. Pferdehirt R, Jain M, Blazo MA, Lee B, Burrage LC. Mol Genet Metab Rep. 2015;4:89-91. |
| Pierre-Robin sequence Clinodactyly | ||
| p|SUB|A|100|S;RS#:140430952 rs140430952 rs754214510 rs764401457 | ||
| 6 (37.5%) |
14564220 |
Catel-Manzke syndrome without cleft palate: a case report. Puri RD, Phadke SR. Clin Dysmorphol. 2003;12(4):279-81. |
| Pectus excavatum Brachydactyly | ||
| rs140430952 rs754214510 rs764401457 | ||
| Cleft Palate Congenital Foot Deformity Congenital Hand Deformities Face Fingers Homo sapiens Male | ||
| 7 (36.1%) |
19144099 (2648951) |
Advanced ossification of the carpal bones, and monkey wrench appearance of the femora, features suggestive of a propable mild form of desbeqious dysplasia: a case report and review of the literature. Al Kaissi A, Radler C, Klaushofer K, Grill F. Cases J. 2009;2(1):45. |
| Hitchhiker thumb Genu valgum | ||
| 8 (31.0%) |
21834032 |
Catel-Manzke syndrome: a clinical report suggesting autosomal recessive inheritance. Kiper PO, Utine GE, Boduroglu K, Alanay Y. Am J Med Genet A. 2011;155A(9):2288-92. |
| Clinodactyly | ||
| rs140430952 rs724160003 rs754214510 rs764401457 | ||
| Adult Cleft Palate Congenital Hand Deformities Females Genes, Recessive Homo sapiens Infant Male Pierre Robin Syndrome | ||
| 8 (31.0%) |
18501694 |
Catel-Manzke syndrome: two new patients and a critical review of the literature. Manzke H, Lehmann K, Klopocki E, Caliebe A. Eur J Med Genet. 2008;51(5):452-65. |
| Clinodactyly | ||
| rs140430952 rs754214510 rs764401457 | ||
| Chromosome Aberrations Cleft Palate Congenital Hand Deformities Females Fingers Homo sapiens Infant Male Middle Aged Pierre Robin Syndrome Sequence Analysis, DNA Syndrome | ||
| 10 (27.8%) |
28371255 |
Short stature, unusual face, delta phalanx, and abnormal vertebrae and ribs in a girl born to half-siblings. Pogue R, Marques FA, Kopacek C, Rosa RCM, Dorfman LE, Mazzeu JF, Flores JAM, Zen PRG, Rosa RFM. Am J Med Genet A. 2017;173(5):1152-1158. |
| High palate | ||
| Bone Diseases, Developmental Child Congenital Hand Deformities Dwarfism Females Homo sapiens Phenotype Pierre Robin Syndrome Sibling |
Total: 25
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000162 | Glossoptosis | Very frequent (99-80%) |
| HP:0000175 | Cleft palate | Very frequent (99-80%) |
| HP:0000272 | Malar flattening | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0001508 | Failure to thrive | Very frequent (99-80%) |
| HP:0004209 | Clinodactyly of the 5th finger | Very frequent (99-80%) |
| HP:0005930 | Abnormality of epiphysis morphology | Very frequent (99-80%) |
| HP:0000293 | Full cheeks | Frequent (79-30%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Frequent (79-30%) |
| HP:0000389 | Chronic otitis media | Frequent (79-30%) |
| HP:0001387 | Joint stiffness | Frequent (79-30%) |
| HP:0001629 | Ventricular septal defect | Frequent (79-30%) |
| HP:0002553 | Highly arched eyebrow | Frequent (79-30%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Occasional (29-5%) |
| HP:0000767 | Pectus excavatum | Occasional (29-5%) |
| HP:0001631 | Atrial septal defect | Occasional (29-5%) |
| HP:0002119 | Ventriculomegaly | Occasional (29-5%) |
| HP:0005692 | Joint hyperflexibility | Occasional (29-5%) |
| HP:0009467 | Radial deviation of the 2nd finger | Occasional (29-5%) |
| HP:0010285 | Oral synechia | Occasional (29-5%) |
| HP:0010508 | Metatarsus valgus | Occasional (29-5%) |
| HP:0100490 | Camptodactyly of finger | Occasional (29-5%) |
Total: 3
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000201 | Pierre-Robin sequence | 3 |
| HP:0030084 | Clinodactyly | 3 |
| HP:0002652 | Skeletal dysplasia | 1 |