| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (77.5%) |
22503264 |
Nager syndrome: a case report. Lin JL. Pediatr Neonatol. 2012;53(2):147-50. |
| Glossoptosis Micrognathia Downslanted palpebral fissures Short forearm | ||
| Child, Preschool Females Homo sapiens Mandibulofacial Dysostosis | ||
| 2 (72.1%) |
18000904 |
Acrofacial dysostosis syndrome type Rodriguez: prenatal diagnosis and autopsy findings. Sermer D, Quercia N, Chong K, Chitayat D. Am J Med Genet A. 2007;143A(24):3286-9. |
| Eyelid coloboma Phocomelia | ||
| rs387907186 | ||
| Autopsy Bone and Bones Face Homo sapiens Infant, Newborn Limb Deformities, Congenital Male Mandibulofacial Dysostosis Syndrome | ||
| 3 (70.5%) |
6711616 |
Acrofacial dysostosis with severe facial clefting and limb reduction. Kawira EL, Weaver DD, Bender HA. Am J Med Genet. 1984;17(3):641-7. |
| Micrognathia Absent forearm Bilateral cleft lip | ||
| Craniofacial Dysostosis Females Homo sapiens Infant, Newborn Leg Syndrome | ||
| 4 (70.3%) |
11982847 |
Anaesthetic implications of Nager syndrome. Groeper K, Johnson JO, Braddock SR, Tobias JD. Paediatr Anaesth. 2002;12(4):365-8. |
| Micrognathia Hypoplasia of the radius | ||
| Child General Anesthesia Homo sapiens Male Mandibulofacial Dysostosis Prone Position Syringomyelia | ||
| 5 (68.9%) |
23568615 |
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome. Czeschik JC, Voigt C, Alanay Y, Albrecht B, Avci S, Fitzpatrick D, Goudie DR, Hehr U, Hoogeboom AJ, Kayserili H, Simsek-Kiper PO, Klein-Hitpass L, Kuechler A, Lopez-Gonzalez V, Martin M, Rahmann S, Schweiger B, Splitt M, Wollnik B, Ludecke HJ, Zeschnigk M, Wieczorek D. Hum Genet. 2013;132(8):885-98. |
| Micrognathia Downslanted palpebral fissures Radioulnar synostosis | ||
| EFTUD2 SF3B4 | ||
| c|SUB|T||C rs387907186 rs397515324 | ||
| Adult Child, Preschool Exome Females Genetic Association Studies Homo sapiens Infant Male Mandibulofacial Dysostosis Mutation RNA Precursors RNA Splicing Factors RNA-Binding Proteins Spliceosomes | ||
| 6 (65.8%) |
15184856 |
Nager syndrome (preaxial acrofacial dysostosis): a case report. Kavadia S, Kaklamanos EG, Antoniades K, Lafazanis V, Tramma D. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2004;97(6):732-8. |
| Micrognathia Microdontia Radioulnar synostosis | ||
| Child, Preschool Homo sapiens Male Mandibulofacial Dysostosis Retrognathia Syndrome Tooth Abnormalities Ventricular Septal Defects | ||
| 7 (65.7%) |
26228803 |
[Nager syndrome associated with tetralogy of Fallot: A frequent association?]. Bellanger C, Villedieu F, Gerard M, Guillois B. Arch Pediatr. 2015;22(9):974-7. |
| Pierre-Robin sequence Absent thumb | ||
| SF3B4 | ||
| c|DEL|1229|C | ||
| Biological Markers Face Females Homo sapiens Infant Mandibulofacial Dysostosis Mutation Phenotype RNA Splicing Factors RNA-Binding Proteins Spliceosomes Tetralogy of Fallot | ||
| 8 (60.6%) |
17013486 |
Nager's acrofacial dysostosis with hypertrophic cardiomyopathy. Kahrom M, Abbaszadegan MR, Kahrom H, Vakili R. Saudi Med J. 2006;27(10):1578-81. |
| Microretrognathia Brachydactyly | ||
| Craniofacial Dysostosis Homo sapiens Hypertrophic Cardiomyopathy Infant Limb Deformities, Congenital Male Syndrome | ||
| 9 (60.5%) |
25808856 |
Nager syndrome and Pierre Robin sequence. Rosa RF, Guimaraes VB, Beltrao LA, Trombetta JS, Lliguin KL, de Mattos VF, Zen PR. Pediatr Int. 2015;57(2):e69-72. |
| Glossoptosis Micrognathia | ||
| Fatal Outcome Homo sapiens Infant Infant, Newborn Male Mandibulofacial Dysostosis Pierre Robin Syndrome Respiration, Artificial | ||
| 10 (60.4%) |
11103674 |
[Distraction osteogenesis of the mandible in 2 children with obstruction of the upper respiratory tract due to micrognathia]. Becking AG, Jansma J. Ned Tijdschr Geneeskd. 2000;144(44):2111-5. |
| Pierre-Robin sequence Micrognathia | ||
| Child, Preschool Females Homo sapiens Male Mandible Mandibulofacial Dysostosis Micrognathism Osteogenesis, Distraction Pierre Robin Syndrome Respiratory Tract Diseases Syndrome |
Total: 29
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000327 | Hypoplasia of the maxilla | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000365 | Hearing impairment | Very frequent (99-80%) |
| HP:0000494 | Downslanted palpebral fissures | Very frequent (99-80%) |
| HP:0000750 | Delayed speech and language development | Very frequent (99-80%) |
| HP:0002652 | Skeletal dysplasia | Very frequent (99-80%) |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | Very frequent (99-80%) |
| HP:0010669 | Hypoplasia of the zygomatic bone | Very frequent (99-80%) |
| HP:0000154 | Wide mouth | Frequent (79-30%) |
| HP:0000174 | Abnormal palate morphology | Frequent (79-30%) |
| HP:0000175 | Cleft palate | Frequent (79-30%) |
| HP:0000413 | Atresia of the external auditory canal | Frequent (79-30%) |
| HP:0000508 | Ptosis | Frequent (79-30%) |
| HP:0000652 | Lower eyelid coloboma | Frequent (79-30%) |
| HP:0001387 | Joint stiffness | Frequent (79-30%) |
| HP:0002093 | Respiratory insufficiency | Frequent (79-30%) |
| HP:0002984 | Hypoplasia of the radius | Frequent (79-30%) |
| HP:0005105 | Abnormal nasal morphology | Frequent (79-30%) |
| HP:0006501 | Aplasia/Hypoplasia of the radius | Frequent (79-30%) |
| HP:0007776 | Sparse lower eyelashes | Frequent (79-30%) |
| HP:0008551 | Microtia | Frequent (79-30%) |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | Frequent (79-30%) |
| HP:0000122 | Unilateral renal agenesis | Occasional (29-5%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Occasional (29-5%) |
| HP:0001199 | Triphalangeal thumb | Occasional (29-5%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Occasional (29-5%) |
| HP:0002814 | Abnormality of the lower limb | Occasional (29-5%) |
| HP:0009829 | Phocomelia | Occasional (29-5%) |
| HP:0100335 | Non-midline cleft lip | Occasional (29-5%) |
Total: 21
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000347 | Micrognathia | 8 |
| HP:0000201 | Pierre-Robin sequence | 5 |
| HP:0000162 | Glossoptosis | 1 |
| HP:0000220 | Velopharyngeal insufficiency | 1 |
| HP:0000252 | Microcephaly | 1 |
| HP:0000308 | Microretrognathia | 1 |
| HP:0000581 | Blepharophimosis | 1 |
| HP:0000625 | Eyelid coloboma | 1 |
| HP:0000691 | Microdontia | 1 |
| HP:0001140 | Limbal dermoid | 1 |
| HP:0001156 | Brachydactyly | 1 |
| HP:0002023 | Anal atresia | 1 |
| HP:0002093 | Respiratory insufficiency | 1 |
| HP:0002098 | Respiratory distress | 1 |
| HP:0002974 | Radioulnar synostosis | 1 |
| HP:0003041 | Humeroradial synostosis | 1 |
| HP:0008572 | External ear malformation | 1 |
| HP:0009777 | Absent thumb | 1 |
| HP:0011947 | Respiratory tract infection | 1 |
| HP:0031013 | Ankylosis | 1 |
| HP:0100258 | Preaxial polydactyly | 1 |