| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 20 (45.4%) |
18947886 |
Airway management in Nager Syndrome. Ho AS, Aleshi P, Cohen SE, Koltai PJ, Cheng AG. Int J Pediatr Otorhinolaryngol. 2008;72(12):1885-8. |
| Glossoptosis Trismus | ||
| Adult Females Homo sapiens Infant, Newborn Mandibulofacial Dysostosis Respiratory Distress Syndrome, Newborn Syndrome | ||
| 20 (45.4%) |
2089020 |
Nager's acrofacial dysostosis. Case report and review of the literature. Danziger I, Brodsky L, Perry R, Nusbaum S, Bernat J, Robinson L. Int J Pediatr Otorhinolaryngol. 1990;20(3):225-40. |
| Trismus Absent soft palate | ||
| Congenital Hand Deformities Fingers Homo sapiens Infant Infant, Newborn Jaw Abnormalities Male Mandibulofacial Dysostosis | ||
| 23 (44.7%) |
15266620 |
Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome. Kennedy SJ, Teebi AS. Am J Med Genet A. 2004;129A(1):73-6. |
| Microcephaly Blepharophimosis | ||
| Blepharophimosis Cleft Palate Differential Diagnosis Females Genes, Recessive Homo sapiens Male Mandibulofacial Dysostosis Microcephaly Nose Syndrome | ||
| 24 (43.6%) |
24715698 |
Rodriguez syndrome with SF3B4 mutation: a severe form of Nager syndrome? McPherson E, Zaleski C, Ye Z, Lin S. Am J Med Genet A. 2014;164A(7):1841-5. |
| Phocomelia | ||
| SF3B4 | ||
| rs387907186 | ||
| Adult Congenital Hand Deformities Differential Diagnosis Facies Females Homo sapiens Infant Limb Deformities, Congenital Mandibulofacial Dysostosis Mutation Phenotype Pregnancy RNA Splicing Factors RNA-Binding Proteins Ultrasonography, Prenatal | ||
| 25 (39.0%) |
11310989 |
Mandibulofacial dysostosis, microcephaly and thorax deformities in two brothers: a new recessive syndrome? Delb W, Lipfert S, Henn W. Clin Dysmorphol. 2001;10(2):105-9. |
| Microcephaly | ||
| Chest Child Genes, Recessive Growth Disorders Homo sapiens Infant Male Mandibulofacial Dysostosis Microcephaly Nuclear Family | ||
| 25 (39.0%) |
2363437 |
Nager anomaly with severe facial involvement, microcephaly, and mental retardation. Palomeque A, Pastor X, Ballesta F. Am J Med Genet. 1990;36(3):356-7. |
| Microcephaly | ||
| Face Females Homo sapiens Intellectual Disability Microcephaly | ||
| 27 (38.7%) |
17119427 |
Craniofacial structures and dental development in three patients with Nager syndrome. Halonen K, Hukki J, Arte S, Hurmerinta K. J Craniofac Surg. 2006;17(6):1180-7. |
| Agenesis of permanent teeth Ankylosis | ||
| Airway Obstruction Cephalometry Child, Preschool Females Homo sapiens Image Processing, Computer-Assisted Male Mandibulofacial Dysostosis Syndrome Tooth Abnormalities | ||
| 28 (32.1%) |
25441681 |
Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole-exome sequencing. Pengelly RJ, Upstill-Goddard R, Arias L, Martinez J, Gibson J, Knut M, Collins AL, Ennis S, Collins A, Briceno I. Clin Genet. 2015;88(5):441-9. |
| Pierre-Robin sequence Cleft lip | ||
| IKBKG IRF6 | ||
| Adult Child Cleft Palate DNA Mutational Analysis Exome Females Homo sapiens Infant Interferon Regulatory Factors Male Mutation Phenotype Syndrome | ||
| 28 (32.1%) |
3437268 |
Nager acrofacial dysostosis with cleft lip. Verloes A, Foret C, Lambotte C. J Genet Hum. 1987;35(5):415-20. |
| Lobulated tongue Cleft lip | ||
| Child, Preschool Craniofacial Dysostosis Homo sapiens Intellectual Disability Male Syndrome | ||
| 30 (31.0%) |
8357565 |
Nager acrofacial dysostosis and preaxial polydactyly: a further example with lethal outcome. Petit P, Moerman P, Fryns JP. Genet Couns. 1993;4(2):135-7. |
| Preaxial polydactyly | ||
| Congenital Heart Defects External Ear Fetal Death Homo sapiens Infant, Newborn Lung Male Mandibulofacial Dysostosis |
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 |