| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (60.5%) |
19014058 |
Prenatally diagnosed lethal type Larsen-like syndrome associated with bifid tongue. Orhan D, Balci S, Deren O, Utine EG, Basaran A, Kale G. Turk J Pediatr. 2008;50(4):395-9. |
| Micrognathia Bifid tongue | ||
| Females Homo sapiens Micrognathism Pregnancy Syndrome Thanatophoric Dysplasia Tongue Ultrasonography, Prenatal Young Adult | ||
| 2 (52.0%) |
11837607 |
Larsen syndrome associated with severe congenital hydrocephalus. Caksen H, Kurtoglu S. Genet Couns. 2001;12(4):369-72. |
| Tapered finger Depressed nasal bridge | ||
| Fatal Outcome Females Homo sapiens Hydrocephalus Infant, Newborn Syndrome X-Ray Computed Tomography | ||
| 3 (42.7%) |
24820731 |
Fast and early mandibular osteogenetic distraction in a 24-day-old female newborn with Larsen syndrome. Basile E, Ramieri V, Papoff P, Castori M, Grammatico P, Bianca C, Angeletti D, Cascone P. J Craniofac Surg. 2014;25(3):e304-7. |
| Retrognathia | ||
| Airway Obstruction Females Homo sapiens Infant, Newborn Mandible Osteochondrodysplasias Osteogenesis, Distraction Polysomnography Respiratory Distress Syndrome, Newborn Retrognathia | ||
| 4 (39.3%) |
3793859 |
Oral and craniofacial morphology of a patient with Larsen syndrome. Tsang MC, Ling JY, King NM, Chow SK. J Craniofac Genet Dev Biol. 1986;6(4):357-62. |
| Hypodontia Osteopetrosis | ||
| Cleft Palate Females Homo sapiens Mouth Abnormalities Syndrome Tooth Abnormalities | ||
| 5 (38.6%) |
18623006 |
[Larsen syndrome: two reports of cases with spinal cord compromise]. Martin Fernandez-Mayoralas D, Fernandez-Jaen A, Munoz-Jareno N, Calleja-Perez B, San Antonio-Arce V, Martinez-Boniche H. Rev Neurol. 2008;47(2):79-82. |
| Cervical kyphosis Short nose | ||
| Congenital Foot Deformity Females Homo sapiens Infant Male Syndrome | ||
| 5 (38.6%) |
12358662 |
Larsen syndrome and its anaesthetic considerations. Malik P, Choudhry DK. Paediatr Anaesth. 2002;12(7):632-6. |
| Cervical instability Flat face | ||
| Cervical Vertebrae Child, Preschool Females Homo sapiens Infant Syndrome | ||
| 7 (36.1%) |
19144099 (2648951) |
Advanced ossification of the carpal bones, and monkey wrench appearance of the femora, features suggestive of a propable mild form of desbeqious dysplasia: a case report and review of the literature. Al Kaissi A, Radler C, Klaushofer K, Grill F. Cases J. 2009;2(1):45. |
| Hitchhiker thumb Genu valgum | ||
| 8 (34.6%) |
8064743 |
A familial syndrome of dwarfism, bilateral club feet, premature aging and progressive panhypogammaglobulinemia. Lenaerts J, Fryns JP, Westhovens R, Dequeker J. J Rheumatol. 1994;21(5):961-3. |
| Talipes Carpal synostosis | ||
| Agammaglobulinemia Dwarfism Females Homo sapiens Middle Aged Progeria Syndrome | ||
| 9 (33.8%) |
7992602 |
[Larsen syndrome: multicenter study of 12 new cases. Diagnosis, planning and results of treatment]. Rodriguez A, Asenjo B, Dominguez R, Lemaire R. Acta Orthop Belg. 1994;60(3):259-73. |
| Elbow dislocation | ||
| Adult Age Factors Child Child, Preschool Diagnostic Imaging Females Homo sapiens Infant Infant, Newborn Joint Instability Male Patient Care Planning Syndrome | ||
| 9 (33.8%) |
539601 |
Pentasomy X with multiple dislocations. Dryer RF, Patil SR, Zellweger HU, Simpson JM, Hanson JW, Aschenbrenner C, Weinstein SL. Am J Med Genet. 1979;4(4):313-21. |
| Elbow dislocation | ||
| Child Differential Diagnosis Females Homo sapiens Intellectual Disability Sex Chromosome Aberrations Shoulder Dislocation Syndrome X Chromosome |
Total: 27
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000272 | Malar flattening | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0001156 | Brachydactyly | Very frequent (99-80%) |
| HP:0001799 | Short nail | Very frequent (99-80%) |
| HP:0005008 | Large joint dislocations | Very frequent (99-80%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
| HP:0005692 | Joint hyperflexibility | Very frequent (99-80%) |
| HP:0009836 | Broad distal phalanx of finger | Very frequent (99-80%) |
| HP:0009882 | Short distal phalanx of finger | Very frequent (99-80%) |
| HP:0011220 | Prominent forehead | Very frequent (99-80%) |
| HP:0011304 | Broad thumb | Very frequent (99-80%) |
| HP:0012368 | Flat face | Very frequent (99-80%) |
| HP:0004232 | Accessory carpal bones | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0000405 | Conductive hearing impairment | Occasional (29-5%) |
| HP:0001249 | Intellectual disability | Occasional (29-5%) |
| HP:0001363 | Craniosynostosis | Occasional (29-5%) |
| HP:0001626 | Abnormality of the cardiovascular system | Occasional (29-5%) |
| HP:0002093 | Respiratory insufficiency | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0003319 | Abnormality of the cervical spine | Occasional (29-5%) |
| HP:0003422 | Vertebral segmentation defect | Occasional (29-5%) |
| HP:0004322 | Short stature | Occasional (29-5%) |
| HP:0005930 | Abnormality of epiphysis morphology | Occasional (29-5%) |
| HP:0006101 | Finger syndactyly | Occasional (29-5%) |
| HP:0008755 | Laryngotracheomalacia | Occasional (29-5%) |
Total: 37
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0012095 | Multiple joint dislocation | 11 |
| HP:0002947 | Cervical kyphosis | 5 |
| HP:0005008 | Large joint dislocations | 5 |
| HP:0002652 | Skeletal dysplasia | 4 |
| HP:0002808 | Kyphosis | 4 |
| HP:0002650 | Scoliosis | 3 |
| HP:0001373 | Joint dislocation | 2 |
| HP:0002089 | Pulmonary hypoplasia | 2 |
| HP:0002751 | Kyphoscoliosis | 2 |
| HP:0003414 | Atlantoaxial dislocation | 2 |
| HP:0008755 | Laryngotracheomalacia | 2 |
| HP:0000316 | Hypertelorism | 1 |
| HP:0000518 | Cataract | 1 |
| HP:0000545 | Myopia | 1 |
| HP:0000668 | Hypodontia | 1 |
| HP:0000704 | Periodontitis | 1 |
| HP:0001182 | Tapered finger | 1 |
| HP:0001369 | Arthritis | 1 |
| HP:0001385 | Hip dysplasia | 1 |
| HP:0001388 | Joint laxity | 1 |
| HP:0001562 | Oligohydramnios | 1 |
| HP:0002341 | Cervical cord compression | 1 |
| HP:0002617 | Dilatation | 1 |
| HP:0002655 | Spondyloepiphyseal dysplasia | 1 |
| HP:0002779 | Tracheomalacia | 1 |
| HP:0002780 | Bronchomalacia | 1 |
| HP:0002816 | Genu recurvatum | 1 |
| HP:0002827 | Hip dislocation | 1 |
| HP:0003319 | Abnormality of the cervical spine | 1 |
| HP:0003470 | Paralysis | 1 |
| HP:0004322 | Short stature | 1 |
| HP:0005116 | Arterial tortuosity | 1 |
| HP:0005280 | Depressed nasal bridge | 1 |
| HP:0006827 | Atrophy of the spinal cord | 1 |
| HP:0008462 | Cervical instability | 1 |
| HP:0011220 | Prominent forehead | 1 |
| HP:0100775 | Dural ectasia | 1 |