| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (63.5%) |
19551629 |
A patient with ascending aortic dilatation, similar to phenotypes of connective tissue disorders. Onrat ST, Emmiler M, Sivaci Y, Soylemez Z, Ozgoz A, Imirzalioglu N. Genet Mol Res. 2009;8(2):426-34. |
| Epicanthus Micrognathia | ||
| c|SUB|C|677|T;RS#:1801133 c|SUB|G|-455|A | ||
| Aorta Connective Tissue Diseases Homo sapiens Male Phenotype Young Adult | ||
| 2 (53.2%) |
7573131 |
Patient with craniosynostosis and marfanoid phenotype (Shprintzen-Goldberg syndrome) and cloverleaf skull. Saal HM, Bulas DI, Allen JF, Vezina LG, Walton D, Rosenbaum KN. Am J Med Genet. 1995;57(4):573-8. |
| Microcephaly Arachnodactyly | ||
| Brain Craniosynostosis Females Fetal Diseases Homo sapiens Infant, Newborn Marfan Syndrome Phenotype Pregnancy Ultrasonography, Prenatal | ||
| 3 (52.6%) |
20681224 |
A Turkish patient of typical Loeys-Dietz syndrome with a TGFBR2 mutation. Tug E, Loeys B, De Paepe A, Aydin H, Gideroglu K. Genet Couns. 2010;21(2):225-32. |
| Retrognathia Hallux valgus | ||
| TGFBR1 TGFBR2 | ||
| Aorta Child, Preschool Congenital Hand Deformities Craniosynostosis Homo sapiens Loeys-Dietz Syndrome Male Missense Mutation Pathological Dilatation Protein-Serine-Threonine Kinases Transforming Growth Factor beta Receptors | ||
| 4 (39.0%) |
31142417 |
Shprintzen-Goldberg Syndrome: A Rare Disorder. Bari A, Sadaqat N, Nawaz N, Bano I. J Coll Physicians Surg Pak. 2019;29(6):S41-S42. |
| Dolichocephaly | ||
| FBN1 SKI | ||
| Anorexia Arachnodactyly Cachexia Craniosynostosis DiGeorge Syndrome Echocardiography Eye Abnormalities Facies Homo sapiens Infant Joint Instability Male Marfan Syndrome Rare Diseases | ||
| 5 (37.5%) |
11822698 |
Shprintzen-Goldberg marfanoid syndrome: a case followed up for 24 years. Stoll C. Clin Dysmorphol. 2002;11(1):1-7. |
| Pectus excavatum Arachnodactyly | ||
| Adult Craniosynostosis Follow-Up Studies Homo sapiens Intellectual Disability Male Marfan Syndrome | ||
| 6 (35.4%) |
12400070 |
Tetrasomy 15q25.3 --> qter resulting from an analphoid supernumerary marker chromosome in a patient with multiple anomalies and bilateral Wilms tumors. Hu J, McPherson E, Surti U, Hasegawa SL, Gunawardena S, Gollin SM. Am J Med Genet. 2002;113(1):82-8. |
| Long fingers | ||
| IGF1R | ||
| Aneuploidy Bone Diseases, Developmental Child, Preschool Chromosome Mapping Chromosomes, Human, Pair 15 DNA Females Homo sapiens Kidney Kidney Neoplasm Lymphocyte Nephroblastoma | ||
| 6 (35.4%) |
10460013 |
A male patient presenting with major clinical symptoms of glucocorticoid deficiency and skeletal dysplasia, showing a steroid pattern compatible with 17alpha-hydroxylase/17,20-lyase deficiency, but without obvious CYP17 gene mutations. Adachi M, Tachibana K, Asakura Y, Suwa S, Nishimura G. Endocr J. 1999;46(2):285-92. |
| Delayed puberty Arachnodactyly | ||
| CYP17A1 | ||
| Bone and Bones Homo sapiens Male Mutation Steroid 17-alpha-Hydroxylase Syndrome | ||
| 6 (35.4%) |
8929375 |
Radiographic findings in Shprintzen-Goldberg syndrome. Nishimura G, Nagai T. Pediatr Radiol. 1996;26(11):775-8. |
| Arachnodactyly | ||
| Bone and Bones Craniosynostosis Developmental Disabilities Homo sapiens Infant Male Marfan Syndrome Micrognathism Syndrome | ||
| 9 (21.2%) |
27302097 |
Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome. Lin AE, Michot C, Cormier-Daire V, L'Ecuyer TJ, Matherne GP, Barnes BH, Humberson JB, Edmondson AC, Zackai E, O'Connor MJ, Kaplan JD, Ebeid MR, Krier J, Krieg E, Ghoshhajra B, Lindsay ME. Am J Med Genet A. 2016;170(10):2617-31. |
| Hypertension Arthropathy | ||
| BMP1 SMAD4 TGFB1 | ||
| rs281875322 | ||
| Adult Cardiovascular Abnormalities Child Congenital Hand Deformities Cryptorchidism Echocardiography Exons Facies Females Fluorescent in Situ Hybridization Genetic Association Studies Growth Disorders High-Throughput Nucleotide Sequencing Homo sapiens Intellectual Disability Magnetic Resonance Imaging Male Mutation Phenotype Smad4 Protein Ultrasonography X-Ray Computed Tomography Young Adult | ||
| 9 (21.2%) |
7573130 |
Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome. Ades LC, Morris LL, Power RG, Wilson M, Haan EA, Bateman JF, Milewicz DM, Sillence DO. Am J Med Genet. 1995;57(4):565-72. |
| Osteopenia | ||
| Bone and Bones Brain Child, Preschool Diseases in Twins Females Homo sapiens Hydrocephalus |
Total: 53
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000268 | Dolichocephaly | Very frequent (99-80%) |
| HP:0000278 | Retrognathia | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000358 | Posteriorly rotated ears | Very frequent (99-80%) |
| HP:0000369 | Low-set ears | Very frequent (99-80%) |
| HP:0000494 | Downslanted palpebral fissures | Very frequent (99-80%) |
| HP:0000506 | Telecanthus | Very frequent (99-80%) |
| HP:0000520 | Proptosis | Very frequent (99-80%) |
| HP:0001166 | Arachnodactyly | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0001763 | Pes planus | Very frequent (99-80%) |
| HP:0002705 | High, narrow palate | Very frequent (99-80%) |
| HP:0000023 | Inguinal hernia | Frequent (79-30%) |
| HP:0000327 | Hypoplasia of the maxilla | Frequent (79-30%) |
| HP:0000348 | High forehead | Frequent (79-30%) |
| HP:0000486 | Strabismus | Frequent (79-30%) |
| HP:0000508 | Ptosis | Frequent (79-30%) |
| HP:0000767 | Pectus excavatum | Frequent (79-30%) |
| HP:0000768 | Pectus carinatum | Frequent (79-30%) |
| HP:0001334 | Communicating hydrocephalus | Frequent (79-30%) |
| HP:0001363 | Craniosynostosis | Frequent (79-30%) |
| HP:0001537 | Umbilical hernia | Frequent (79-30%) |
| HP:0001634 | Mitral valve prolapse | Frequent (79-30%) |
| HP:0001646 | Abnormal aortic valve morphology | Frequent (79-30%) |
| HP:0001653 | Mitral regurgitation | Frequent (79-30%) |
| HP:0002007 | Frontal bossing | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0005692 | Joint hyperflexibility | Frequent (79-30%) |
| HP:0100490 | Camptodactyly of finger | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000252 | Microcephaly | Occasional (29-5%) |
| HP:0000405 | Conductive hearing impairment | Occasional (29-5%) |
| HP:0000411 | Protruding ear | Occasional (29-5%) |
| HP:0000463 | Anteverted nares | Occasional (29-5%) |
| HP:0000545 | Myopia | Occasional (29-5%) |
| HP:0000774 | Narrow chest | Occasional (29-5%) |
| HP:0000921 | Missing ribs | Occasional (29-5%) |
| HP:0000938 | Osteopenia | Occasional (29-5%) |
| HP:0000944 | Abnormality of the metaphysis | Occasional (29-5%) |
| HP:0000974 | Hyperextensible skin | Occasional (29-5%) |
| HP:0001387 | Joint stiffness | Occasional (29-5%) |
| HP:0001508 | Failure to thrive | Occasional (29-5%) |
| HP:0002020 | Gastroesophageal reflux | Occasional (29-5%) |
| HP:0002104 | Apnea | Occasional (29-5%) |
| HP:0002119 | Ventriculomegaly | Occasional (29-5%) |
| HP:0002308 | Arnold-Chiari malformation | Occasional (29-5%) |
| HP:0002857 | Genu valgum | Occasional (29-5%) |
| HP:0003042 | Elbow dislocation | Occasional (29-5%) |
| HP:0003312 | Abnormal form of the vertebral bodies | Occasional (29-5%) |
| HP:0006487 | Bowing of the long bones | Occasional (29-5%) |
| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature | Occasional (29-5%) |
Total: 9
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001249 | Intellectual disability | 3 |
| HP:0002617 | Dilatation | 3 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000268 | Dolichocephaly | 1 |
| HP:0001638 | Cardiomyopathy | 1 |
| HP:0002566 | Intestinal malrotation | 1 |
| HP:0002676 | Cloverleaf skull | 1 |
| HP:0005112 | Abdominal aortic aneurysm | 1 |
| HP:0100807 | Long fingers | 1 |