| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (64.7%) |
6264378 |
Diploid-triploid mixoploidy: clinical and cytogenetic aspects. Graham JM Jr, Hoehn H, Lin MS, Smith DW. Pediatrics. 1981;68(1):23-8. |
| Micrognathia Cleft lip | ||
| Chromosome Aberrations Fibroblasts Growth Disorders Homo sapiens Infant, Newborn Male Polyploidy Syndactyly | ||
| 2 (63.5%) |
7507296 |
Dup(1q)(q42-->qter) syndrome: case report and review of literature. Kennerknecht I, Barbi G, Rodens K. Am J Med Genet. 1993;47(8):1157-60. |
| Triangular face Micrognathia Telecanthus | ||
| Chromosomes, Human, Pair 1 Developmental Disabilities Face Homo sapiens Infant Male Mouth Abnormalities Multigene Family Syndrome Trisomy | ||
| 3 (62.5%) |
3473100 |
Russell-Silver syndrome: microdontia and other pertinent oral findings. Cullen CL, Wesley RK. ASDC J Dent Child. 1987;54(3):201-4. |
| Microdontia Hemiatrophy | ||
| Child, Preschool Females Fetal Growth Retardation Homo sapiens Mandible Pregnancy Syndrome Tooth Abnormalities | ||
| 4 (61.0%) |
11405596 |
Russell-Silver Syndrome in a Nigerian infant with intrauterine growth retardation. Johnson AW, Mokuolu OA. J Natl Med Assoc. 2001;93(5):185-94. |
| Broad forehead Rhizomelia | ||
| Adult Fatal Outcome Females Fetal Growth Retardation Homo sapiens Infant, Newborn Low Birth Weight Infant Nigeria Pregnancy Syndrome Thanatophoric Dysplasia | ||
| 5 (59.0%) |
16856554 |
[Anesthetic management of a child with Russell-Silver syndrome]. Hara H, Matsunaga M. Masui. 2006;55(7):904-6. |
| Triangular face Micrognathia | ||
| Child, Preschool Growth Disorders Homo sapiens Hypospadias Intellectual Disability Intubation, Intratracheal Male Methyl Ethers Syndrome | ||
| 6 (58.0%) |
14760276 |
IMAGe syndrome: a complex disorder affecting growth, adrenal and gonadal function, and skeletal development. Pedreira CC, Savarirayan R, Zacharin MR. J Pediatr. 2004;144(2):274-7. |
| Micrognathia Metaphyseal dysplasia | ||
| GH1 | ||
| Bone Diseases, Developmental Child, Preschool Cryptorchidism External Ear Fetal Growth Retardation Growth Hormone Homo sapiens Male Micrognathism Syndrome | ||
| 7 (54.4%) |
24075556 |
Dilated cardiomyopathy in a 32-year-old woman with Russell-Silver syndrome. Ryan TD, Gupta A, Gupta D, Goldenberg P, Taylor MD, Lorts A, Jefferies JL. Cardiovasc Pathol. 2014;23(1):21-7. |
| Triangular face Relative macrocephaly Finger clinodactyly | ||
| Adrenergic beta-Antagonists Adult Angiotensin-Converting Enzyme Inhibitors Biopsy Cardiomyopathy, Dilated DNA Methylation Females Genetic Predisposition to Disease Genomic Imprinting Homo sapiens Magnetic Resonance Imaging Myocardium Phenotype | ||
| 7 (54.4%) |
15490033 |
Russell-Silver syndrome: molecular diagnosis of maternal uniparental disomy of chromosome 7 using methylation-specific polymerase chain reaction assay and single nucleotide polymorphisms genotyping. Chou YY, Chen CC, Kuo PL, Tsai WH, Lin SJ. J Formos Med Assoc. 2004;103(10):797-802. |
| Triangular face Frontal bossing Finger clinodactyly | ||
| MEST | ||
| Child Chromosomes, Human, Pair 7 Craniofacial Abnormalities DNA Methylation Females Genotype Growth Disorders Homo sapiens Polymerase Chain Reaction Single Nucleotide Polymorphism Syndrome Uniparental Disomy | ||
| 9 (53.2%) |
4040173 |
Phenotypic delineation of ring chromosome 15 and Russell-Silver syndromes. Wilson GN, Sauder SE, Bush M, Beitins IZ. J Med Genet. 1985;22(3):233-6. |
| Microcephaly Finger clinodactyly | ||
| Chromosome Aberrations Chromosomes, Human, 13-15 Dwarfism Face Females Fetal Growth Retardation Homo sapiens Male Phenotype Pregnancy Ring Chromosomes Syndrome | ||
| 10 (50.0%) |
11412409 |
[Russel-Silver syndrome]. Martinez Nogueiras A, Teixeira Costeira M, Saraiva Moreira H, Araujo Antunes H. An Esp Pediatr. 2001;54(6):591-4. |
| Triangular face Frontal bossing Clinodactyly | ||
| Bone and Bones Craniofacial Abnormalities Fetal Growth Retardation Homo sapiens Infant Male Syndrome |
Total: 16
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001347 | Hyperreflexia | Frequent (79-30%) |
| HP:0001436 | Abnormality of the foot musculature | Frequent (79-30%) |
| HP:0002064 | Spastic gait | Frequent (79-30%) |
| HP:0003487 | Babinski sign | Frequent (79-30%) |
| HP:0009027 | Foot dorsiflexor weakness | Frequent (79-30%) |
| HP:0009130 | Hand muscle atrophy | Frequent (79-30%) |
| HP:0001171 | Split hand | Occasional (29-5%) |
| HP:0001763 | Pes planus | Occasional (29-5%) |
| HP:0002174 | Postural tremor | Occasional (29-5%) |
| HP:0002936 | Distal sensory impairment | Occasional (29-5%) |
| HP:0003693 | Distal amyotrophy | Occasional (29-5%) |
| HP:0030237 | Hand muscle weakness | Occasional (29-5%) |
| HP:0030838 | Hip pain | Occasional (29-5%) |
| HP:0030839 | Knee pain | Occasional (29-5%) |
| HP:0031374 | Ankle weakness | Occasional (29-5%) |
| HP:0040131 | Abnormal motor nerve conduction velocity | Occasional (29-5%) |
Total: 32
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0008897 | Postnatal growth retardation | 7 |
| HP:0000325 | Triangular face | 4 |
| HP:0001258 | Spastic paraplegia | 4 |
| HP:0004482 | Relative macrocephaly | 4 |
| HP:0001508 | Failure to thrive | 3 |
| HP:0030084 | Clinodactyly | 3 |
| HP:0002144 | Tethered cord | 2 |
| HP:0004322 | Short stature | 2 |
| HP:0005461 | Craniofacial disproportion | 2 |
| HP:0040019 | Finger clinodactyly | 2 |
| HP:0040075 | Hypopituitarism | 2 |
| HP:0000047 | Hypospadias | 1 |
| HP:0000085 | Horseshoe kidney | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000473 | Torticollis | 1 |
| HP:0000691 | Microdontia | 1 |
| HP:0000737 | Irritability | 1 |
| HP:0001257 | Spasticity | 1 |
| HP:0001510 | Growth delay | 1 |
| HP:0001511 | Intrauterine growth retardation | 1 |
| HP:0001528 | Hemihypertrophy | 1 |
| HP:0001945 | Fever | 1 |
| HP:0002061 | Lower limb spasticity | 1 |
| HP:0002138 | Subarachnoid hemorrhage | 1 |
| HP:0002313 | Spastic paraparesis | 1 |
| HP:0002650 | Scoliosis | 1 |
| HP:0002653 | Bone pain | 1 |
| HP:0004943 | Accelerated atherosclerosis | 1 |
| HP:0009830 | Peripheral neuropathy | 1 |
| HP:0011089 | Double tooth | 1 |
| HP:0031013 | Ankylosis | 1 |
| HP:0200055 | Small hand | 1 |