| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (66.3%) |
15127766 |
Femoral-facial syndrome with hemifacial microsomia and hypoglossia. Duzcan F, Ergin H, Percin EF, Tepeli E, Erkula G. Clin Dysmorphol. 2004;13(1):43-4. |
| Long philtrum Micrognathia | ||
| Ectromelia Face Femur Homo sapiens Infant, Newborn Male Syndrome | ||
| 2 (61.0%) |
15841618 |
Prenatal diagnosis of hemifacial microsomia by magnetic resonance imaging. Hattori Y, Tanaka M, Matsumoto T, Uehara K, Ueno K, Miwegishi K, Ishimoto H, Miyakoshi K, Yoshimura Y. J Perinat Med. 2005;33(1):69-71. |
| Facial asymmetry Hemiatrophy | ||
| Adult Differential Diagnosis Females Goldenhar Syndrome Homo sapiens Magnetic Resonance Imaging Male Pregnancy Pregnancy Outcome Ultrasonography | ||
| 3 (59.0%) |
28643921 |
Whole-exome sequencing identified a variant in EFTUD2 gene in establishing a genetic diagnosis. Rengasamy Venugopalan S, Farrow EG, Lypka M. Orthod Craniofac Res. 2017;20 Suppl 1:50-56. |
| Facial asymmetry Micrognathia | ||
| EFTUD2 | ||
| c|SUB|C|259|T p|SUB|Q|87|* | ||
| Differential Diagnosis Exome Females Genotype Homo sapiens Mandibulofacial Dysostosis Peptide Elongation Factors Phenotype Ribonucleoprotein, U5 Small Nuclear | ||
| 3 (59.0%) |
21184723 |
[Holt-Oram syndrome associated with facial anomalies. A case report]. Avina-Fierro JA, Colonnelli-Barba G. Rev Med Inst Mex Seguro Soc. 2010;48(6):657-9. |
| Micrognathia Depressed nasal bridge | ||
| TBX5 | ||
| Atrial Septal Defects Child, Preschool Congenital Heart Defects Face Females Homo sapiens Lower Extremity Deformities, Congenital Phenotype Upper Extremity Deformities, Congenital | ||
| 5 (57.8%) |
24605928 |
Atypical expanded-spectrum hemifacial microsomia: a case report. Magge KT, Kim J, Rogers GF, Oh AK. Cleft Palate Craniofac J. 2015;52(2):240-5. |
| Micrognathia | ||
| Females Goldenhar Syndrome Homo sapiens Infant, Newborn | ||
| 5 (57.8%) |
16573158 |
[Analysis of the complications following mandibular distraction using internal distractors]. Wu GP, Teng L, Gui L, Sun XM, Zhang ZY, Liu JF, Yu B, Xia DL, Luo JC. Zhonghua Zheng Xing Wai Ke Za Zhi. 2006;22(1):18-21. |
| Micrognathia | ||
| Adult Child Child, Preschool Females Homo sapiens Internal Fixators Intraoperative Complications Male Mandible Osteogenesis, Distraction Postoperative Complications Young Adult | ||
| 5 (57.8%) |
16532152 |
Monozygotic twins discordant for Goldenhar syndrome. Verona LL, Damian NG, Pavarina LP, Ferreira CH, Melo DG. J Pediatr (Rio J). 2006;82(1):75-8. |
| Micrognathia | ||
| Apgar Score Diseases in Twins Females Goldenhar Syndrome Homo sapiens Infant, Newborn Preterm Infant | ||
| 5 (57.8%) |
11770457 |
[Mandibular elongation and remodeling by gradual distraction. An experience of 277 cases]. Molina F. Ann Chir Plast Esthet. 2001;46(5):507-15. |
| Micrognathia | ||
| Adult Child Child, Preschool Females Homo sapiens Male Mandibulofacial Dysostosis Preoperative Care Reconstructive Surgical Procedures Severity of Illness Index X-Ray Computed Tomography | ||
| 5 (57.8%) |
8669439 |
Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculovertebral spectrum. Johnson JP, Poskanzer LS, Sherman S. Am J Med Genet. 1996;61(2):134-9. |
| Micrognathia | ||
| Adult Child Dermoid Cyst Females Goldenhar Syndrome Homo sapiens Infant Infant, Newborn Male Middle Aged Syndrome | ||
| 10 (53.8%) |
11572253 |
Fibrous ankylosis after distraction osteogenesis of a costochondral neomandible in a patient with grade III hemifacial microsomia. Thomas DJ, Rees MJ. J Craniofac Surg. 2001;12(5):469-74. |
| Pseudoarthrosis Temporomandibular joint ankylosis | ||
| Ankylosis Bone Transplantation Cartilage Females Homo sapiens Mandible Microstomia Oral Surgical Procedures Osteogenesis, Distraction Pseudarthrosis Temporomandibular Joint Disorders |
Total: 34
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000324 | Facial asymmetry | Very frequent (99-80%) |
| HP:0000175 | Cleft palate | Frequent (79-30%) |
| HP:0000327 | Hypoplasia of the maxilla | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0000384 | Preauricular skin tag | Frequent (79-30%) |
| HP:0000486 | Strabismus | Frequent (79-30%) |
| HP:0000568 | Microphthalmia | Frequent (79-30%) |
| HP:0000581 | Blepharophimosis | Frequent (79-30%) |
| HP:0000636 | Upper eyelid coloboma | Frequent (79-30%) |
| HP:0001140 | Limbal dermoid | Frequent (79-30%) |
| HP:0001249 | Intellectual disability | Frequent (79-30%) |
| HP:0002937 | Hemivertebrae | Frequent (79-30%) |
| HP:0003468 | Abnormal vertebral morphology | Frequent (79-30%) |
| HP:0004467 | Preauricular pit | Frequent (79-30%) |
| HP:0004660 | Hypoplasia of facial musculature | Frequent (79-30%) |
| HP:0008551 | Microtia | Frequent (79-30%) |
| HP:0008591 | Congenital conductive hearing impairment | Frequent (79-30%) |
| HP:0008605 | Unilateral external ear deformity | Frequent (79-30%) |
| HP:0000076 | Vesicoureteral reflux | Occasional (29-5%) |
| HP:0000086 | Ectopic kidney | Occasional (29-5%) |
| HP:0000238 | Hydrocephalus | Occasional (29-5%) |
| HP:0000252 | Microcephaly | Occasional (29-5%) |
| HP:0000407 | Sensorineural hearing impairment | Occasional (29-5%) |
| HP:0000564 | Lacrimal duct atresia | Occasional (29-5%) |
| HP:0001274 | Agenesis of corpus callosum | Occasional (29-5%) |
| HP:0001629 | Ventricular septal defect | Occasional (29-5%) |
| HP:0001636 | Tetralogy of Fallot | Occasional (29-5%) |
| HP:0001680 | Coarctation of aorta | Occasional (29-5%) |
| HP:0002089 | Pulmonary hypoplasia | Occasional (29-5%) |
| HP:0002308 | Arnold-Chiari malformation | Occasional (29-5%) |
| HP:0009740 | Aplasia of the parotid gland | Occasional (29-5%) |
| HP:0030283 | Partial absence of the septum pellucidum | Occasional (29-5%) |
| HP:0000528 | Anophthalmia | Very rare (4-1%) |
| HP:0009892 | Anotia | Very rare (4-1%) |
Total: 57
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000324 | Facial asymmetry | 20 |
| HP:0000347 | Micrognathia | 5 |
| HP:0000528 | Anophthalmia | 5 |
| HP:0031013 | Ankylosis | 4 |
| HP:0000568 | Microphthalmia | 3 |
| HP:0002650 | Scoliosis | 3 |
| HP:0010609 | Skin tags | 3 |
| HP:0000589 | Coloboma | 2 |
| HP:0002089 | Pulmonary hypoplasia | 2 |
| HP:0010628 | Facial palsy | 2 |
| HP:0012730 | Aglossia | 2 |
| HP:0410030 | Cleft lip | 2 |
| HP:0000062 | Ambiguous genitalia | 1 |
| HP:0000126 | Hydronephrosis | 1 |
| HP:0000201 | Pierre-Robin sequence | 1 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000316 | Hypertelorism | 1 |
| HP:0000369 | Low-set ears | 1 |
| HP:0000384 | Preauricular skin tag | 1 |
| HP:0000413 | Atresia of the external auditory canal | 1 |
| HP:0000414 | Bulbous nose | 1 |
| HP:0000486 | Strabismus | 1 |
| HP:0000559 | Corneal scarring | 1 |
| HP:0000572 | Visual loss | 1 |
| HP:0000588 | Optic nerve coloboma | 1 |
| HP:0000602 | Ophthalmoplegia | 1 |
| HP:0000609 | Optic nerve hypoplasia | 1 |
| HP:0000668 | Hypodontia | 1 |
| HP:0000772 | Abnormality of the ribs | 1 |
| HP:0000824 | Growth hormone deficiency | 1 |
| HP:0001140 | Limbal dermoid | 1 |
| HP:0001159 | Syndactyly | 1 |
| HP:0001270 | Motor delay | 1 |
| HP:0001321 | Cerebellar hypoplasia | 1 |
| HP:0001357 | Plagiocephaly | 1 |
| HP:0001629 | Ventricular septal defect | 1 |
| HP:0001655 | Patent foramen ovale | 1 |
| HP:0001710 | Conotruncal defect | 1 |
| HP:0001733 | Pancreatitis | 1 |
| HP:0002410 | Aqueductal stenosis | 1 |
| HP:0002617 | Dilatation | 1 |
| HP:0002797 | Osteolysis | 1 |
| HP:0002870 | Obstructive sleep apnea | 1 |
| HP:0002937 | Hemivertebrae | 1 |
| HP:0003470 | Paralysis | 1 |
| HP:0004467 | Preauricular pit | 1 |
| HP:0005280 | Depressed nasal bridge | 1 |
| HP:0007209 | Facial paralysis | 1 |
| HP:0009125 | Lipodystrophy | 1 |
| HP:0010296 | Ankyloglossia | 1 |
| HP:0011090 | Fused teeth | 1 |
| HP:0011968 | Feeding difficulties | 1 |
| HP:0012378 | Fatigue | 1 |
| HP:0030021 | Auricular tag | 1 |
| HP:0040292 | Left hemiplegia | 1 |
| HP:0100307 | Cerebellar hemisphere hypoplasia | 1 |
| HP:0100556 | Hemiatrophy | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|