| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (62.3%) |
15194949 |
Cenani-Lenz syndactyly in a patient with features of Kabuki syndrome. Elliott AM, Reed MH, Evans JA, Cross HG, Chudley AE. Clin Dysmorphol. 2004;13(3):143-50. |
| Long eyelashes Radioulnar synostosis Screwdriver-shaped incisors | ||
| Bone and Bones Child, Preschool Face Facies Hand Homo sapiens Male Phenotype Syndactyly Syndrome | ||
| 2 (57.3%) |
18512233 |
Complex toe syndactyly with characteristic facial phenotype: a new syndrome? Sobreira NL, Cernach MC, Brunoni D, Perez AB. Am J Med Genet A. 2008;146A(13):1725-8. |
| Syndactyly Ablepharon | ||
| Child Craniofacial Abnormalities Females Fingers Genes, Recessive Hand Homo sapiens Phenotype Syndactyly Syndrome Toes | ||
| 3 (55.8%) |
28559208 |
Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms. Afzal M, Zaman Q, Kornak U, Mundlos S, Malik S, Flottmann R. Eur J Med Genet. 2017;60(8):421-425. |
| Syndactyly Frontal bossing Cleft lip | ||
| LRP4 | ||
| c|SUB|G|316+1|A;RS#:780336679 rs780336679 | ||
| Child Females Homo sapiens LDL-Receptor Related Proteins Male Mutation Phenotype RNA Splicing Syndactyly | ||
| 4 (51.4%) |
30041615 (6057103) |
Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly. Hettiaracchchi D, Bonnard C, Jayawardana SMA, Ng AYJ, Tohari S, Venkatesh B, Reversade B, Singaraja R, Dissanayake VHW. BMC Med Genet. 2018;19(1):125. |
| Syndactyly Radioulnar synostosis Postaxial oligodactyly | ||
| c|SUB|A|1348|G p|SUB|I|450|V | ||
| Adult Females Fingers Homo sapiens Homozygote Male Mutation Syndactyly Toes Young Adult | ||
| 5 (39.7%) |
23664847 |
Cenani-Lenz syndrome restricted to limb and kidney anomalies associated with a novel LRP4 missense mutation. Khan TN, Klar J, Ali Z, Khan F, Baig SM, Dahl N. Eur J Med Genet. 2013;56(7):371-4. |
| Syndactyly Radioulnar synostosis | ||
| LRP4 | ||
| c|SUB|T|2858|C p|SUB|L|953|P | ||
| Adult Aged, 80 and over Amino Acid Sequence Child Females Homo sapiens Homozygote Kidney LDL-Receptor Related Proteins Lower Extremity Deformities, Congenital Male Middle Aged Missense Mutation Molecular Sequence Data Syndactyly | ||
| 5 (39.7%) |
22802556 |
Cenani-Lenz syndrome-like limb anomaly with more severe involvement of left side. Ahmed S, Al-Aama JY. BMJ Case Rep. 2012;2012:. |
| Radioulnar synostosis | ||
| Differential Diagnosis Face Females Fingers Genetic Counseling Homo sapiens Infant Phenotype Pregnancy Prenatal Exposure Delayed Effects Severity of Illness Index Syndactyly Syndrome Teratogens Toes | ||
| 7 (37.5%) |
15039974 |
A novel type of autosomal recessive syndactyly: clinical and molecular studies in a family of Pakistani origin. Malik S, Arshad M, Amin-Ud-Din M, Oeffner F, Dempfle A, Haque S, Koch MC, Ahmad W, Grzeschik KH. Am J Med Genet A. 2004;126A(1):61-7. |
| Syndactyly Metacarpal synostosis | ||
| rs672601337 | ||
| Adult Biological Markers Chromosomes, Human, Pair 2 Chromosomes, Human, Pair 6 Congenital Foot Deformity Congenital Hand Deformities Females Genes, Recessive Homo sapiens Male Pakistan Phenotype Syndactyly | ||
| 8 (33.1%) |
25676610 |
A novel APC mutation defines a second locus for Cenani-Lenz syndrome. Patel N, Faqeih E, Anazi S, Alfawareh M, Wakil SM, Colak D, Alkuraya FS. J Med Genet. 2015;52(5):317-21. |
| Syndactyly Scoliosis | ||
| CTNNB1 LRP4 | ||
| rs863225354 rs876657408 | ||
| Adenomatous Polyposis Coli Protein Alternative Splicing Chromosome Mapping Exome Facies Females Gene Expression Profiling Gene Expression Regulation Gene Order Gene Regulatory Networks Genetic Association Studies High-Throughput Nucleotide Sequencing Homo sapiens Male Mutation Phenotype Quantitative Trait Loci Syndactyly | ||
| 9 (32.2%) |
15138725 |
The duplicated longitudinal epiphysis or "kissing delta phalanx": evolution and variation in three different disorders. Elliott AM, Evans JA, Chudley AE, Reed MH. Skeletal Radiol. 2004;33(6):345-51. |
| Bracket epiphyses | ||
| MT1IP | ||
| Child, Preschool Females Fingers Homo sapiens Infant Male Rubinstein-Taybi Syndrome Syndactyly Syndrome Toes | ||
| 10 (31.0%) |
24924585 |
Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani-Lenz syndrome. Lindy AS, Bupp CP, McGee SJ, Steed E, Stevenson RE, Basehore MJ, Friez MJ. Am J Med Genet A. 2014;164A(9):2391-7. |
| Syndactyly | ||
| CTNNB1 LRP4 LRP5 LRP6 | ||
| Fatal Outcome Females Fetus Homo sapiens LDL-Receptor Related Proteins Male Mutation Postmortem Changes Sibling Syndactyly |
Total: 41
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001163 | Abnormality of the metacarpal bones | Very frequent (99-80%) |
| HP:0001817 | Absent fingernail | Very frequent (99-80%) |
| HP:0002007 | Frontal bossing | Very frequent (99-80%) |
| HP:0005048 | Synostosis of carpal bones | Very frequent (99-80%) |
| HP:0006101 | Finger syndactyly | Very frequent (99-80%) |
| HP:0012165 | Oligodactyly | Very frequent (99-80%) |
| HP:0100240 | Synostosis of joints | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000494 | Downslanted palpebral fissures | Frequent (79-30%) |
| HP:0001770 | Toe syndactyly | Frequent (79-30%) |
| HP:0001802 | Absent toenail | Frequent (79-30%) |
| HP:0002974 | Radioulnar synostosis | Frequent (79-30%) |
| HP:0002984 | Hypoplasia of the radius | Frequent (79-30%) |
| HP:0003022 | Hypoplasia of the ulna | Frequent (79-30%) |
| HP:0009778 | Short thumb | Frequent (79-30%) |
| HP:0000272 | Malar flattening | Occasional (29-5%) |
| HP:0000322 | Short philtrum | Occasional (29-5%) |
| HP:0000365 | Hearing impairment | Occasional (29-5%) |
| HP:0000411 | Protruding ear | Occasional (29-5%) |
| HP:0000444 | Convex nasal ridge | Occasional (29-5%) |
| HP:0000508 | Ptosis | Occasional (29-5%) |
| HP:0000518 | Cataract | Occasional (29-5%) |
| HP:0000520 | Proptosis | Occasional (29-5%) |
| HP:0000639 | Nystagmus | Occasional (29-5%) |
| HP:0000656 | Ectropion | Occasional (29-5%) |
| HP:0000668 | Hypodontia | Occasional (29-5%) |
| HP:0000682 | Abnormality of dental enamel | Occasional (29-5%) |
| HP:0000772 | Abnormality of the ribs | Occasional (29-5%) |
| HP:0000821 | Hypothyroidism | Occasional (29-5%) |
| HP:0001601 | Laryngomalacia | Occasional (29-5%) |
| HP:0001849 | Foot oligodactyly | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0002705 | High, narrow palate | Occasional (29-5%) |
| HP:0002827 | Hip dislocation | Occasional (29-5%) |
| HP:0002983 | Micromelia | Occasional (29-5%) |
| HP:0003042 | Elbow dislocation | Occasional (29-5%) |
| HP:0003196 | Short nose | Occasional (29-5%) |
| HP:0003312 | Abnormal form of the vertebral bodies | Occasional (29-5%) |
| HP:0004736 | Crossed fused renal ectopia | Occasional (29-5%) |
| HP:0007477 | Abnormal dermatoglyphics | Occasional (29-5%) |
| HP:0008678 | Renal hypoplasia/aplasia | Occasional (29-5%) |
Total: 3
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001159 | Syndactyly | 6 |
| HP:0012165 | Oligodactyly | 2 |
| HP:0002974 | Radioulnar synostosis | 1 |