| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 11 (57.8%) |
31235977 |
A Case of Nager Syndrome Diagnosed Before Birth. Hayata K, Masuyama H, Eto E, Mitsui T, Tamada S, Eguchi T, Maki J, Tani K, Ohira A, Washio Y, Yoshimoto J, Hasegawa K. Acta Med Okayama. 2019;73(3):273-277. |
| Micrognathia | ||
| Adult Females Homo sapiens Magnetic Resonance Imaging Mandibulofacial Dysostosis Pregnancy Ultrasonography, Prenatal X-Ray Computed Tomography | ||
| 11 (57.8%) |
28688869 |
Ankylosis of temporomandibular joints after mandibular distraction osteogenesis in patients with Nager syndrome: Report of two cases and literature review. Wu CC, Sakahara D, Imai K. J Plast Reconstr Aesthet Surg. 2017;70(10):1449-1456. |
| Micrognathia | ||
| Ankylosis Child Females Homo sapiens Male Mandible Mandibulofacial Dysostosis Micrognathism Osteogenesis, Distraction Repeat Surgery Temporomandibular Joint | ||
| 11 (57.8%) |
23913624 |
Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to Nager syndrome. Nur BG, Bernier FP, Oztekin O, Kardelen F, Kalay S, Parboosingh JS, Mihci E. Am J Med Genet A. 2013;161A(9):2311-5. |
| Micrognathia | ||
| SF3B4 | ||
| Differential Diagnosis Facies Females Genes, Recessive Homo sapiens Infant Infant, Newborn Mandibulofacial Dysostosis Phenotype | ||
| 11 (57.8%) |
12601847 |
Prenatal ultrasound diagnosis of Nager syndrome. Paladini D, Tartaglione A, Lamberti A, Lapadula C, Martinelli P. Ultrasound Obstet Gynecol. 2003;21(2):195-7. |
| Micrognathia | ||
| Females Homo sapiens Mandibulofacial Dysostosis Pregnancy Pregnancy Trimester, Second Syndrome Ultrasonography, Prenatal | ||
| 11 (57.8%) |
3472688 |
Nager syndrome: an update of speech and hearing characteristics. Meyerson MD, Nisbet JB. Cleft Palate J. 1987;24(2):142-51. |
| Micrognathia | ||
| Child Child, Preschool Females Homo sapiens Infant Language Development Male Mandibulofacial Dysostosis Speech Disorders Syndrome | ||
| 11 (57.8%) |
3367347 |
Autosomal recessive inheritance of Nager acrofacial dysostosis. Chemke J, Mogilner BM, Ben-Itzhak I, Zurkowski L, Ophir D. J Med Genet. 1988;25(4):230-2. |
| Micrognathia | ||
| Females Genes, Recessive Homo sapiens Infant, Newborn Male Mandibulofacial Dysostosis Syndrome | ||
| 17 (48.4%) |
8882111 |
Nager acrofacial dysostosis: management of a difficult airway. Friedman RA, Wood E, Pransky SM, Seid AB, Kearns DB. Int J Pediatr Otorhinolaryngol. 1996;35(1):69-72. |
| Trismus Absent eyelashes | ||
| Airway Obstruction Craniofacial Dysostosis Homo sapiens Infant, Newborn Respiration, Artificial Syndrome | ||
| 18 (47.6%) |
24479055 (3894007) |
Oculoauriculovertebral spectrum with radial anomaly in child. Taksande A, Vilhekar K. J Family Med Prim Care. 2013;2(1):92-4. |
| Facial asymmetry Preaxial polydactyly | ||
| 19 (46.0%) |
30924273 |
The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature. Drivas TG, Taylor JA, Zackai EH. Am J Med Genet A. 2019;179(6):1063-1068. |
| Humeroradial synostosis Phocomelia | ||
| SF3B4 | ||
| Alleles Congenital Hand Deformities Exons Genotype High-Throughput Nucleotide Sequencing Homo sapiens Infant, Newborn Introns Male Mandibulofacial Dysostosis Mutation Phenotype Single Nucleotide Polymorphism | ||
| 20 (45.4%) |
24303385 (3846201) |
A case report: nager acrofacial dysostosis. Abdollahi Fakhim S, Shahidi N, Mousaviagdas M. Iran J Otorhinolaryngol. 2012;24(66):45-50. |
| Retrognathia Absent soft palate | ||
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 |