| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (58.9%) |
12673658 |
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers. Schweitzer DN, Lachman RS, Pressman BD, Graham JM Jr. Am J Med Genet A. 2003;118A(3):267-73. |
| Microcephaly Narrow nose Blepharophimosis Arachnodactyly | ||
| Blepharophimosis Bone and Bones Brain Child Child, Preschool Congenital Foot Deformity Congenital Hand Deformities Facies Homo sapiens Magnetic Resonance Imaging Male Marfan Syndrome Syndrome | ||
| 2 (39.0%) |
30579083 |
Beals syndrome with middle and inner ear dysplasia and encephalocele: A case report and review of imaging findings. Weidman EK, Morgenstern PF, Phillips CD, Greenfield JP, Schwartz TH, Heier LA. Int J Pediatr Otorhinolaryngol. 2019;117:26-29. |
| Encephalocele | ||
| Arachnodactyly Child Contracture Homo sapiens Labyrinth Magnetic Resonance Imaging Male X-Ray Computed Tomography | ||
| 3 (37.5%) |
27625873 |
Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene. Mehar V, Yadav D, Kumar R, Yadav S, Singh K, Callewaert B, Pathan S, De Paepe A, Coucke PJ. J Pediatr Genet. 2014;3(3):163-6. |
| Arachnodactyly Scoliosis | ||
| FBN2 | ||
| 3 (37.5%) |
25493702 |
Beals-Hecht syndrome (congenital contractural arachnodactyly) with additional craniospinal abnormality: a case report. Meena JP, Gupta A, Mishra D, Juneja M. J Pediatr Orthop B. 2015;24(3):226-9. |
| Arachnodactyly Kyphoscoliosis | ||
| FBN1 FBN2 | ||
| Arachnodactyly Cervical Vertebrae Contracture Females Homo sapiens Infant | ||
| 3 (37.5%) |
23595522 |
Congenital contractural arachnodactyly (Beals-Hecht syndrome): a rare connective tissue disorder. Jurko A Jr, Krsiakova J, Minarik M, Tonhajzerova I. Wien Klin Wochenschr. 2013;125(9-10):288-90. |
| Arachnodactyly Scoliosis | ||
| Arachnodactyly Child, Preschool Connective Tissue Diseases Contracture Homo sapiens Male Rare Diseases | ||
| 3 (37.5%) |
16172901 |
Infantile scoliosis in Beals syndrome: the use of a non-fusion technique for surgical correction. Martin AG, Foguet PR, Marks DS, Thompson AG, Child AH. Eur Spine J. 2006;15(4):433-9. |
| Arachnodactyly Scoliosis | ||
| Child, Preschool Connective Tissue Diseases Females Homo sapiens Infant Orthopedic Fixation Devices Orthopedic Procedures Syndrome | ||
| 3 (37.5%) |
15017482 |
Congenital contractural arachnodactyly and femoral fracture in a newborn infant: a causal relationship or a coincidence? Kupeli S, Korkmaz A, Bulun A, Yurdakok M, Tuncbilek E. Am J Perinatol. 2004;21(1):41-4. |
| Arachnodactyly Kyphoscoliosis | ||
| Adult Differential Diagnosis Fatal Outcome Females Femoral Fractures Homo sapiens Infant, Newborn Male Marfan Syndrome Pregnancy | ||
| 3 (37.5%) |
12383326 |
Prenatal ultrasound findings in a fetus with congenital contractural arachnodactyly. Kolble N, Wisser J, Babcock D, Maslen C, Huch R, Steinmann B. Ultrasound Obstet Gynecol. 2002;20(4):395-9. |
| Arachnodactyly Kyphoscoliosis | ||
| Adult Calcium-Binding Proteins DNA Mutational Analysis Females Fetal Diseases Fibrillins Homo sapiens Marfan Syndrome Microfilament Proteins Pregnancy Ultrasonography, Prenatal | ||
| 3 (37.5%) |
12144083 |
Beals-Hecht syndrome. Jones JL, Lane JE, Logan JJ, Vanegas ME. South Med J. 2002;95(7):753-5. |
| Arachnodactyly Scoliosis | ||
| Child Connective Tissue Diseases Contracture External Ear Fibrillins Genes, Dominant Homo sapiens Male Microfilament Proteins Somatotype Syndrome | ||
| 3 (37.5%) |
6834743 |
[Congenital contractural arachnodactyly (CCA syndrome)--an autosomal dominant hereditary connective tissue disease]. Meinecke P, Schaefer E, Passarge E. Klin Padiatr. 1983;195(1):64-70. |
| Arachnodactyly Scoliosis | ||
| SON | ||
| Adult Child, Preschool Chromosome Aberrations Connective Tissue Diseases Contracture Females Genes, Dominant Genetic Counseling Homo sapiens Male Marfan Syndrome Middle Aged Syndrome |
Total: 21
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000218 | High palate | Very frequent (99-80%) |
| HP:0001166 | Arachnodactyly | Very frequent (99-80%) |
| HP:0001371 | Flexion contracture | Very frequent (99-80%) |
| HP:0001387 | Joint stiffness | Very frequent (99-80%) |
| HP:0001533 | Slender build | Very frequent (99-80%) |
| HP:0002650 | Scoliosis | Very frequent (99-80%) |
| HP:0002803 | Congenital contracture | Very frequent (99-80%) |
| HP:0002804 | Arthrogryposis multiplex congenita | Very frequent (99-80%) |
| HP:0003011 | Abnormality of the musculature | Very frequent (99-80%) |
| HP:0008453 | Congenital kyphoscoliosis | Very frequent (99-80%) |
| HP:0008544 | Abnormally folded helix | Very frequent (99-80%) |
| HP:0009901 | Crumpled ear | Very frequent (99-80%) |
| HP:0100490 | Camptodactyly of finger | Very frequent (99-80%) |
| HP:0001519 | Disproportionate tall stature | Frequent (79-30%) |
| HP:0001083 | Ectopia lentis | Occasional (29-5%) |
| HP:0001634 | Mitral valve prolapse | Occasional (29-5%) |
| HP:0001724 | obsolete Aortic dilatation | Occasional (29-5%) |
| HP:0002247 | Duodenal atresia | Occasional (29-5%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Occasional (29-5%) |
| HP:0002566 | Intestinal malrotation | Occasional (29-5%) |
| HP:0002575 | Tracheoesophageal fistula | Occasional (29-5%) |
Total: 28
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001166 | Arachnodactyly | 11 |
| HP:0002803 | Congenital contracture | 5 |
| HP:0001371 | Flexion contracture | 3 |
| HP:0002650 | Scoliosis | 3 |
| HP:0002751 | Kyphoscoliosis | 3 |
| HP:0009901 | Crumpled ear | 3 |
| HP:0001181 | Adducted thumb | 2 |
| HP:0002617 | Dilatation | 2 |
| HP:0012385 | Camptodactyly | 2 |
| HP:0000316 | Hypertelorism | 1 |
| HP:0000460 | Narrow nose | 1 |
| HP:0000581 | Blepharophimosis | 1 |
| HP:0000717 | Autism | 1 |
| HP:0001249 | Intellectual disability | 1 |
| HP:0001582 | Redundant skin | 1 |
| HP:0001629 | Ventricular septal defect | 1 |
| HP:0001638 | Cardiomyopathy | 1 |
| HP:0001643 | Patent ductus arteriosus | 1 |
| HP:0002084 | Encephalocele | 1 |
| HP:0002090 | Pneumonia | 1 |
| HP:0002097 | Emphysema | 1 |
| HP:0002156 | Homocystinuria | 1 |
| HP:0002828 | Multiple joint contractures | 1 |
| HP:0004927 | Pulmonary artery dilatation | 1 |
| HP:0008572 | External ear malformation | 1 |
| HP:0011506 | Choroidal neovascularization | 1 |
| HP:0012758 | Neurodevelopmental delay | 1 |
| HP:0100693 | Iridodonesis | 1 |