| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (55.7%) |
28875142 (5583202) |
Van der Woude syndrome presenting as a single median lower lip pit with associated dental, orofacial and limb deformities: a rare case report. Richardson S, Khandeparker RV. J Korean Assoc Oral Maxillofac Surg. 2017;43(4):267-271. |
| Lower lip pit Syndactyly Bilateral cleft lip | ||
| 2 (53.9%) |
27286731 |
Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6. Busche A, Hehr U, Sieg P, Gillessen-Kaesbach G. Am J Med Genet A. 2016;170(9):2404-7. |
| Lower lip pit Cutaneous syndactyly | ||
| IRF6 | ||
| c|SUB|A|265|G p|SUB|K|89|E | ||
| Adult Alleles Cleft Palate Cyst Exons Eye Abnormalities Females Fingers Genetic Association Studies Heterozygote Homo sapiens Infant, Newborn Interferon Regulatory Factors Lower Extremity Deformities, Congenital Male Mutation Phenotype Syndactyly Urogenital Abnormalities | ||
| 2 (53.9%) |
25478421 |
A case of vander woude syndrome with rare phenotypic expressions. Tripathi A, Tiwari B, Gupta S, Patil R, Khanna V. J Clin Diagn Res. 2014;8(10):PD03-5. |
| Lower lip pit Syndactyly | ||
| 2 (53.9%) |
10593995 |
Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32. Lees MM, Winter RM, Malcolm S, Saal HM, Chitty L. J Med Genet. 1999;36(12):888-92. |
| Lower lip pit Syndactyly | ||
| Adult Chromosome Mapping Chromosomes, Human, Pair 1 Cleft Palate Females Homo sapiens Knee Male Syndrome | ||
| 5 (53.4%) |
11920830 |
Van der Woude syndrome with sensorineural hearing loss, large craniofacial sinuses, dental pulp stones, and minor limb anomalies: report of a four-generation Thai family. Kantaputra PN, Sumitsawan Y, Schutte BC, Tochareontanaphol C. Am J Med Genet. 2002;108(4):275-80. |
| Brachydactyly Pulp stones | ||
| Adult Child Child, Preschool Craniofacial Abnormalities Dental Pulp Fatal Outcome Females Homo sapiens Limb Deformities, Congenital Male Middle Aged Syndrome Thailand | ||
| 6 (50.2%) |
23853466 (3703680) |
Van der Woude syndrome: Management in the mixed dentition. Agarwal S, Dinesh MR, Dharma RM, Amarnath BC. Contemp Clin Dent. 2013;4(1):105-7. |
| Retrognathia Lip pit | ||
| 7 (42.7%) |
22801158 |
Early release of interalveolar synechiae under general anesthesia through fiberscopic nasal intubation. Svee A, Frykholm P, Linder A, Hakelius M, Skoog V, Nowinski D. J Craniofac Surg. 2012;23(4):e299-302. |
| Temporomandibular joint ankylosis | ||
| Cleft Palate Cyst Females Fiber Optic Technology General Anesthesia Homo sapiens Infant, Newborn Male Oral Surgical Procedures Tissue Adhesions | ||
| 8 (39.3%) |
19231229 |
Congenital maxillomandibular syngnathia: case report. Parkins GE, Boamah MO. J Craniomaxillofac Surg. 2009;37(5):276-8. |
| Popliteal pterygium Aglossia | ||
| Cleft Palate Females Gingiva Homo sapiens Infant, Newborn Jaw Abnormalities Mandible Maxilla Micrognathism Mouth Abnormalities | ||
| 9 (37.1%) |
18478600 |
A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia. de Medeiros F, Hansen L, Mawlad E, Eiberg H, Asklund C, Tommerup N, Jakobsen LP. Am J Med Genet A. 2008;146A(12):1605-8. |
| Hypospadias Ankyloblepharon Lip pit | ||
| IRF6 | ||
| p|SUB|R|339|I;RS#:121434231 rs121434231 rs2235371 | ||
| Base Sequence Child, Preschool Exons Homo sapiens Interferon Regulatory Factors Kidney Male Missense Mutation Molecular Sequence Data Syndrome | ||
| 10 (36.6%) |
3367915 |
[Van der Woude syndrome in combination with ring chromosome 18]. Kalker U, Gabriel M, Jacobi G. Monatsschr Kinderheilkd. 1988;136(2):95-8. |
| Epicanthus Cleft lip | ||
| Atrial Septal Defects Chromosome Aberrations Chromosome Deletion Chromosomes, Human, Pair 18 Cleft Palate Females Homo sapiens Infant Lip Diseases Ring Chromosomes Syndrome |
Total: 6
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0100267 | Lip pit | Very frequent (99-80%) |
| HP:0000175 | Cleft palate | Frequent (79-30%) |
| HP:0000196 | Lower lip pit | Frequent (79-30%) |
| HP:0000204 | Cleft upper lip | Occasional (29-5%) |
| HP:0000668 | Hypodontia | Occasional (29-5%) |
| HP:0010286 | Abnormal salivary gland morphology | Occasional (29-5%) |
Total: 21
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0410030 | Cleft lip | 19 |
| HP:0000196 | Lower lip pit | 15 |
| HP:0100267 | Lip pit | 10 |
| HP:0000668 | Hypodontia | 5 |
| HP:0009756 | Popliteal pterygium | 2 |
| HP:0000201 | Pierre-Robin sequence | 1 |
| HP:0000202 | Oral cleft | 1 |
| HP:0000286 | Epicanthus | 1 |
| HP:0000316 | Hypertelorism | 1 |
| HP:0000324 | Facial asymmetry | 1 |
| HP:0000695 | Natal tooth | 1 |
| HP:0001159 | Syndactyly | 1 |
| HP:0001217 | Clubbing | 1 |
| HP:0003771 | Pulp stones | 1 |
| HP:0004322 | Short stature | 1 |
| HP:0010296 | Ankyloglossia | 1 |
| HP:0012478 | Temporomandibular joint ankylosis | 1 |
| HP:0012725 | Cutaneous syndactyly | 1 |
| HP:0012730 | Aglossia | 1 |
| HP:0100269 | Paramedian lip pit | 1 |
| HP:0100336 | Bilateral cleft lip | 1 |