| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (49.0%) |
14564221 |
Unusual combination of limb malformations in the same patient: brachydactyly with syndactyly and postaxial polydactyly of the hands and postaxial oligodactyly of the feet. Ferda Percin E, Yilmaz S. Clin Dysmorphol. 2003;12(4):283-4. |
| Brachydactyly Postaxial oligodactyly | ||
| Congenital Foot Deformity Congenital Hand Deformities Females Fingers Homo sapiens Infant | ||
| 2 (45.9%) |
21965580 |
A case report of fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome associated with Klinefelter syndrome and review of the literature. Ekbote AV, Danda S. Foot Ankle Spec. 2012;5(1):37-40. |
| Fibular aplasia | ||
| WNT7A | ||
| Congenital Hand Deformities Fibula Genetic Predisposition to Disease Health Risk Assessment Homo sapiens Infant Klinefelter Syndrome Male Rare Diseases Syndactyly Syndrome | ||
| 3 (43.6%) |
19530188 |
Al-Awadi/Raas-Rothschild/Schinzel (AARRS) phocomelia syndrome: case report and developmental field analysis. Subhani M, Akangire G, Kulkarni A, Wilson GN. Am J Med Genet A. 2009;149A(7):1494-8. |
| Single umbilical artery Phocomelia | ||
| Anus, Imperforate Child Development Ectromelia Females Homo sapiens Infant, Newborn Syndrome Urogenital Abnormalities Wnt Proteins | ||
| 4 (31.0%) |
12868468 |
Fuhrmann syndrome: two Brazilian cases. Huber J, Volpon JB, Ramos ES. Clin Dysmorphol. 2003;12(2):85-8. |
| Skeletal dysplasia Oligodactyly | ||
| Fibula Fingers Homo sapiens Infant Infant, Newborn Male Polydactyly Toes | ||
| 5 (27.8%) |
28917830 |
Al-Awadi-Raas-Rothschild syndrome with dental anomalies and a novel WNT7A mutation. Kantaputra PN, Kapoor S, Verma P, Kaewgahya M, Kawasaki K, Ohazama A, Ketudat Cairns JR. Eur J Med Genet. 2017;60(12):695-700. |
| Hypodontia | ||
| AXIN2 EDA EDAR EDARADD GREM2 IKBKG KRT17 MSX1 PAX9 TFAP2B WNT10A | ||
| c|SUB|A|550|C p|SUB|N|184|D | ||
| Adult Amenorrhea Animals Child, Preschool Ectromelia Epithelium Homo sapiens Homozygote Male Missense Mutation Mus Pelvic Bones Tooth Abnormalities Uterus Wnt Proteins | ||
| 6 (21.2%) |
10929615 |
[Individual cement-free total hip endoprosthesis in a patient with a rare form of dwarfism (Fuhrmann syndrome)]. Rittmeister M, Bischof F, Starker M. Z Orthop Ihre Grenzgeb. 2000;138(3):235-9. |
| Osteoarthritis | ||
| Dwarfism Dysostoses Females Follow-Up Studies Homo sapiens Middle Aged Postoperative Complications Prosthesis Design Syndrome X-Ray Computed Tomography | ||
| 6 (21.2%) |
1785629 |
Fuhrmann syndrome of right-angle bowed femora, absence of fibulae and digital anomalies: two further cases. Lipson AH, Kozlowski K, Barylak A, Marsden W. Am J Med Genet. 1991;41(2):176-9. |
| Skeletal dysplasia | ||
| Congenital Foot Deformity Congenital Hand Deformities Females Femur Fibula Genes, Recessive Homo sapiens Infant, Newborn Kidney Nails, Malformed | ||
| 8 (17.5%) |
11332978 |
Fuhrmann syndrome associated with cortical dysplasia. Aynaci FM, Aynaci O, Ahmetoglu A, Celep F. Genet Couns. 2001;12(1):49-54. |
| Inguinal hernia | ||
| Bone Diseases, Developmental Congenital Foot Deformity Congenital Hand Deformities Homo sapiens Infant, Newborn Leg Magnetic Resonance Imaging Male Syndrome |
Total: 0
| HPO ID | Term | Frequency |
|---|
Total: 4
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001156 | Brachydactyly | 1 |
| HP:0001159 | Syndactyly | 1 |
| HP:0002539 | Cortical dysplasia | 1 |
| HP:0009829 | Phocomelia | 1 |