| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (68.2%) |
1505578 |
Robinow syndrome in two siblings from consanguineous parents. Schorderet DF, Dahoun S, Defrance I, Nussle D, Morris MA. Eur J Pediatr. 1992;151(8):586-9. |
| Macrocephaly Short forearm | ||
| Child, Preschool Chromosome Aberrations Dwarfism Face Females Homo sapiens Infant Limb Deformities, Congenital Male Syndrome | ||
| 2 (66.3%) |
12548386 |
Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome. Olivieri C, Maraschio P, Caselli D, Martini C, Beluffi G, Maserati E, Danesino C. Eur J Pediatr. 2003;162(2):100-3. |
| Epicanthus Micrognathia Brachydactyly | ||
| PTCH1 ROR2 | ||
| Basal Cell Nevus Syndrome Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 9 Facies Fingers Homo sapiens Limb Deformities, Congenital Male Syndrome | ||
| 3 (61.7%) |
3549067 |
Robinow syndrome: report of two patients and review of literature. Butler MG, Wadlington WB. Clin Genet. 1987;31(2):77-85. |
| Long philtrum Brachydactyly Frontal bossing | ||
| Adult Bone and Bones Child Face Females Genitalia Growth Disorders Homo sapiens Infant Male Syndrome | ||
| 4 (61.0%) |
25045061 |
An osteosclerotic form of Robinow syndrome. Bunn KJ, Lai A, Al-Ani A, Farella M, Craw S, Robertson SP. Am J Med Genet A. 2014;164A(10):2638-42. |
| Mesomelia Short nose | ||
| rs797044835 rs797044839 | ||
| Child Craniofacial Abnormalities Dwarfism Face Females Homo sapiens Limb Deformities, Congenital Male Osteosclerosis Phenotype Urogenital Abnormalities | ||
| 5 (59.0%) |
9383028 |
Is the frequency of Robinow syndrome relatively high in Turkey? Four more case reports. Aksit S, Aydinlioglu H, Dizdarer G, Caglayan S, Bektaslar D, Cin A. Clin Genet. 1997;52(4):226-30. |
| Micrognathia Anteverted nares | ||
| Dwarfism Dysostoses Face Females Hernia Homo sapiens Infant, Newborn Limb Deformities, Congenital Male Phenotype Syndactyly Syndrome Toes | ||
| 6 (57.8%) |
12950866 |
Anaesthetic implications of the child with Robinow syndrome. Sleesman JB, Tobias JD. Paediatr Anaesth. 2003;13(7):629-32. |
| Micrognathia | ||
| Anesthetics, Inhalation Anesthetics, Intravenous Appendectomy Appendicitis Child Face Growth Disorders Homo sapiens Laparoscopy Limb Deformities, Congenital Male Male Genital Organs Syndrome | ||
| 7 (56.4%) |
21693067 (3135502) |
9q22 Deletion--first familial case. Siggberg L, Peippo M, Sipponen M, Miikkulainen T, Shimojima K, Yamamoto T, Ignatius J, Knuutila S. Orphanet J Rare Dis. 2011;6:45. |
| Downslanted palpebral fissures Brachydactyly | ||
| PTCH1 ROR2 SYK | ||
| Adult Body Dysmorphic Disorders Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 9 Family Females Fluorescent in Situ Hybridization Genetic Association Studies Homo sapiens Intellectual Disability Intracellular Signaling Peptides and Proteins Male Oligonucleotide Array Sequence Analysis Protein Tyrosine Kinase Receptor Tyrosine Kinase-like Orphan Receptors | ||
| 8 (54.5%) |
26816964 |
Robinow Syndrome: A Rare Diagnosis. Mishra S, Agarwalla SK, Pradhan S. J Clin Diagn Res. 2015;9(12):SD04-5. |
| Abnormality of the head Pectus excavatum Broad thumb | ||
| 9 (53.5%) |
28955595 (5573473) |
Dental management and orofacial manifestations of a patient with Robinow Syndrome. Basman A, Akay G, Peker I, Gungor K, Akarslan Z, Ozcan S, Ucok CO. J Istanb Univ Fac Dent. 2017;51(2):43-48. |
| Broad finger Multiple impacted teeth | ||
| 10 (49.0%) |
29575631 |
Biallelic loss-of-function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndrome. Birgmeier J, Esplin ED, Jagadeesh KA, Guturu H, Wenger AM, Chaib H, Buckingham JA, Bejerano G, Bernstein JA. Am J Med Genet A. 2018;176(4):1030-1036. |
| Ambiguous genitalia Adactyly | ||
| Alleles Animal Disease Models Animals Craniofacial Abnormalities Dwarfism Females Gene Frequency Genetic Association Studies Homo sapiens Homozygote Infant Limb Deformities, Congenital Loss of Function Mutation Mice, Knockout Mus Phenotype Point Mutation Severity of Illness Index Symptom Assessment Ultrasonography Urogenital Abnormalities Whole Genome Sequencing Wnt-5a Protein |
Total: 0
| HPO ID | Term | Frequency |
|---|
Total: 25
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0004322 | Short stature | 5 |
| HP:0000316 | Hypertelorism | 3 |
| HP:0001156 | Brachydactyly | 2 |
| HP:0003027 | Mesomelia | 2 |
| HP:0000023 | Inguinal hernia | 1 |
| HP:0000054 | Micropenis | 1 |
| HP:0000062 | Ambiguous genitalia | 1 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000278 | Retrognathia | 1 |
| HP:0000824 | Growth hormone deficiency | 1 |
| HP:0001052 | Nevus flammeus | 1 |
| HP:0001171 | Split hand | 1 |
| HP:0001582 | Redundant skin | 1 |
| HP:0002007 | Frontal bossing | 1 |
| HP:0002027 | Abdominal pain | 1 |
| HP:0002326 | Transient ischemic attack | 1 |
| HP:0002937 | Hemivertebrae | 1 |
| HP:0003186 | Inverted nipples | 1 |
| HP:0003196 | Short nose | 1 |
| HP:0003457 | EMG abnormality | 1 |
| HP:0008443 | Spinal deformities | 1 |
| HP:0010307 | Stridor | 1 |
| HP:0011220 | Prominent forehead | 1 |
| HP:0011968 | Feeding difficulties | 1 |
| HP:0410030 | Cleft lip | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|