| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (60.3%) |
6698065 |
Optiz trigonocephaly syndrome: report of two cases. Flatz SD, Schinzel A, Doehring E, Kamran D, Eilers E. Eur J Pediatr. 1984;141(3):183-5. |
| Broad alveolar ridges Trigonocephaly Upslanted palpebral fissure Brachydactyly | ||
| Congenital Heart Defects Females Homo sapiens Infant Infant, Newborn Male Syndrome | ||
| 2 (59.6%) |
7258228 |
Further delineation of the C (trigonocephaly) syndrome. Antley RM, Hwang DS, Theopold W, Gorlin RJ, Steeper T, Pitt D, Danks DM, McPherson E, Bartels H, Wiedemann HR, Opitz JM. Am J Med Genet. 1981;9(2):147-63. |
| Trigonocephaly Epicanthus Thick anterior alveolar ridges Bridged palmar crease | ||
| Child Females Head Homo sapiens Intellectual Disability Male | ||
| 3 (54.9%) |
15235171 |
Partial trisomy 13 with features similar to C syndrome. Phadke SR, Patil SJ. Indian Pediatr. 2004;41(6):614-7. |
| Smooth philtrum Polydactyly | ||
| Chromosomes, Human, Pair 13 Homo sapiens Infant Intellectual Disability Male Polydactyly Syndrome Trisomy | ||
| 4 (52.8%) |
9415479 |
Opitz C trigonocephaly syndrome and midline brain anomalies. Zampino G, Di Rocco C, Butera G, Balducci F, Colosimo C, Torrioli MG, Mastroiacovo P. Am J Med Genet. 1997;73(4):484-8. |
| Trigonocephaly Upslanted palpebral fissure Hip dysplasia | ||
| Brain Child, Preschool Craniofacial Abnormalities Cryptorchidism Dandy-Walker Syndrome Developmental Disabilities Females Fingers Homo sapiens Infant, Newborn Magnetic Resonance Imaging Male Pregnancy Syndrome | ||
| 5 (51.5%) |
8986276 |
Another Arab patient with overlap of Varadi-Papp/Opitz trigonocephaly syndromes? Sabry MA, al Saleh Q, Farah S, Obenbergerova D, Simeonov S, al Awadi SA, Farag TI. Am J Med Genet. 1997;68(1):54-7. |
| Lobulated tongue Frontal bossing Polydactyly | ||
| Craniofacial Abnormalities Fingers Homo sapiens Infant Male Phenotype X-Ray Computed Tomography | ||
| 6 (49.6%) |
15389716 |
A case of Kabuki (Niikawa-Kuroki) syndrome associated with manifestations resembling C-trigonocephaly syndrome. David G, Sillence D, Hardwick R, Opitz JM. Am J Med Genet A. 2004;130A(4):389-92. |
| Upslanted palpebral fissure Talipes equinovarus | ||
| Child, Preschool Face Homo sapiens Male Maxillofacial Development Syndrome | ||
| 7 (46.2%) |
1746609 |
Opitz trigonocephaly syndrome. Haaf T, Hofmann R, Schmid M. Am J Med Genet. 1991;40(4):444-6. |
| High palate Trigonocephaly Upslanted palpebral fissure | ||
| Congenital Heart Defects Eisenmenger Complex Face Females Genes, Recessive Head Homo sapiens Infant, Newborn Intellectual Disability Micrognathism | ||
| 8 (44.7%) |
9098489 |
Probable Opitz trigonocephaly C syndrome with medulloblastoma. Omran H, Hildebrandt F, Korinthenberg R, Brandis M. Am J Med Genet. 1997;69(4):395-9. |
| Upslanted palpebral fissure Metopic synostosis | ||
| Cerebellar Neoplasms Fatal Outcome Homo sapiens Magnetic Resonance Imaging Medulloblastoma Syndrome | ||
| 9 (41.7%) |
1614184 |
[Opitz-trigonocephaly syndrome--a characteristic dysmorphia-retardation syndrome of unclear origin]. Choudhury AR, Renneberg A, Rackowitz A, Stephani U. Klin Padiatr. 1992;204(3):171-3. |
| Broad alveolar ridges Trigonocephaly | ||
| Chromosome Aberrations Genes, Recessive Homo sapiens Infant Intellectual Disability Male Physical Therapy Modalities Syndrome | ||
| 10 (40.2%) |
12567409 |
Clinical and genetic aspects of trigonocephaly: a study of 25 cases. Azimi C, Kennedy SJ, Chitayat D, Chakraborty P, Clarke JT, Forrest C, Teebi AS. Am J Med Genet A. 2003;117A(2):127-35. |
| Trigonocephaly Metopic synostosis | ||
| Child, Preschool Chromosome Aberrations Craniofacial Abnormalities Craniosynostosis Fatal Outcome Females Homo sapiens Infant Infant, Newborn Male Syndrome |
Total: 54
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000028 | Cryptorchidism | Very frequent (99-80%) |
| HP:0000212 | Gingival overgrowth | Very frequent (99-80%) |
| HP:0000218 | High palate | Very frequent (99-80%) |
| HP:0000243 | Trigonocephaly | Very frequent (99-80%) |
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0000286 | Epicanthus | Very frequent (99-80%) |
| HP:0000319 | Smooth philtrum | Very frequent (99-80%) |
| HP:0000343 | Long philtrum | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Very frequent (99-80%) |
| HP:0000463 | Anteverted nares | Very frequent (99-80%) |
| HP:0000470 | Short neck | Very frequent (99-80%) |
| HP:0000582 | Upslanted palpebral fissure | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0003196 | Short nose | Very frequent (99-80%) |
| HP:0004209 | Clinodactyly of the 5th finger | Very frequent (99-80%) |
| HP:0004422 | Biparietal narrowing | Very frequent (99-80%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
| HP:0010458 | Female pseudohermaphroditism | Very frequent (99-80%) |
| HP:0100720 | Hypoplasia of the ear cartilage | Very frequent (99-80%) |
| HP:0000191 | Accessory oral frenulum | Frequent (79-30%) |
| HP:0000233 | Thin vermilion border | Frequent (79-30%) |
| HP:0000486 | Strabismus | Frequent (79-30%) |
| HP:0000767 | Pectus excavatum | Frequent (79-30%) |
| HP:0000960 | Sacral dimple | Frequent (79-30%) |
| HP:0001250 | Seizures | Frequent (79-30%) |
| HP:0001252 | Muscular hypotonia | Frequent (79-30%) |
| HP:0001373 | Joint dislocation | Frequent (79-30%) |
| HP:0001376 | Limitation of joint mobility | Frequent (79-30%) |
| HP:0001531 | Failure to thrive in infancy | Frequent (79-30%) |
| HP:0001582 | Redundant skin | Frequent (79-30%) |
| HP:0001883 | Talipes | Frequent (79-30%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Frequent (79-30%) |
| HP:0002983 | Micromelia | Frequent (79-30%) |
| HP:0003083 | Dislocated radial head | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0004378 | Abnormality of the anus | Frequent (79-30%) |
| HP:0007598 | Bilateral single transverse palmar creases | Frequent (79-30%) |
| HP:0007601 | Midline facial capillary hemangioma | Frequent (79-30%) |
| HP:0010978 | Abnormality of immune system physiology | Frequent (79-30%) |
| HP:0000003 | Multicystic kidney dysplasia | Occasional (29-5%) |
| HP:0000085 | Horseshoe kidney | Occasional (29-5%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0000776 | Congenital diaphragmatic hernia | Occasional (29-5%) |
| HP:0001161 | Hand polydactyly | Occasional (29-5%) |
| HP:0001522 | Death in infancy | Occasional (29-5%) |
| HP:0001539 | Omphalocele | Occasional (29-5%) |
| HP:0001561 | Polyhydramnios | Occasional (29-5%) |
| HP:0001770 | Toe syndactyly | Occasional (29-5%) |
| HP:0002019 | Constipation | Occasional (29-5%) |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | Occasional (29-5%) |
| HP:0008678 | Renal hypoplasia/aplasia | Occasional (29-5%) |
| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature | Occasional (29-5%) |
| HP:0010720 | Abnormal hair pattern | Occasional (29-5%) |
Total: 22
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000243 | Trigonocephaly | 5 |
| HP:0000582 | Upslanted palpebral fissure | 3 |
| HP:0001582 | Redundant skin | 3 |
| HP:0000028 | Cryptorchidism | 2 |
| HP:0000486 | Strabismus | 2 |
| HP:0001701 | Pericarditis | 2 |
| HP:0004322 | Short stature | 2 |
| HP:0000023 | Inguinal hernia | 1 |
| HP:0000348 | High forehead | 1 |
| HP:0000369 | Low-set ears | 1 |
| HP:0000470 | Short neck | 1 |
| HP:0000855 | Insulin resistance | 1 |
| HP:0001156 | Brachydactyly | 1 |
| HP:0001385 | Hip dysplasia | 1 |
| HP:0001629 | Ventricular septal defect | 1 |
| HP:0001662 | Bradycardia | 1 |
| HP:0001762 | Talipes equinovarus | 1 |
| HP:0001909 | Leukemia | 1 |
| HP:0001945 | Fever | 1 |
| HP:0002586 | Peritonitis | 1 |
| HP:0008110 | Equinovarus deformity | 1 |
| HP:0011330 | Metopic synostosis | 1 |