| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (68.2%) |
26349195 |
A VARIANT CASE OF 6p24 DELETION SYNDROME (OMIM #612582). Ergin RN, Cigerciogullari E, Alanay Y, Yayla M. Genet Couns. 2015;26(2):237-41. |
| Micrognathia Broad nasal tip Broad thumb Cleft lip | ||
| FOXC1 | ||
| Adult Chromosome Deletion Chromosomes, Human, Pair 6 Females Fetal Diseases Homo sapiens Pregnancy Ultrasonography, Prenatal | ||
| 2 (67.4%) |
3344780 |
A new acro-cranio-facial dysostosis syndrome in sisters. Kaplan P, Plauchu H, Fitch N, Jequier S. Am J Med Genet. 1988;29(1):95-106. |
| Short philtrum Micrognathia Duplication of the distal phalanx of the thumb | ||
| Child, Preschool Craniofacial Dysostosis Craniosynostosis Females Genes, Recessive Homo sapiens Infant, Newborn Limb Deformities, Congenital Syndrome | ||
| 3 (66.3%) |
11311002 |
A new syndrome with craniofacial and skeletal dysmorphisms and developmental delay. Der Kaloustian VM, Pelletier M, Costa T, Blackston DR, Oudjhane K. Clin Dysmorphol. 2001;10(2):87-93. |
| Smooth philtrum Micrognathia | ||
| rs281875333 | ||
| Bone and Bones Brain Developmental Disabilities Epilepsy Homo sapiens Hydronephrosis Macrostomia Male | ||
| 4 (59.0%) |
474632 |
Duplication 6q syndrome. Tipton RE, Berns JS, Johnson WE, Wilroy RS Jr, Summitt RL. Am J Med Genet. 1979;3(4):325-30. |
| Micrognathia Depressed nasal bridge | ||
| Chromosomes, Human, 6-12 and X Craniosynostosis Face Females Homo sapiens Intellectual Disability Microcephaly Phenotype Syndrome Trisomy | ||
| 5 (58.9%) |
957376 |
Pfeiffer syndrome: report of a family and review of the literature. Naveh Y, Friedman A. J Med Genet. 1976;13(4):277-80. |
| Brachydactyly Broad phalanx Slanting of the palpebral fissure | ||
| Acrocephalosyndactylia Adult Child, Preschool Foot Homo sapiens Male | ||
| 6 (58.0%) |
1642806 |
Familial occurrence of Summitt syndrome or a variant example of Carpenter syndrome? Pierquin G, Seligmann R, Van Regemorter N. Genet Couns. 1992;3(2):101-5. |
| Brachydactyly Narrow maxilla Depressed nasal bridge | ||
| Acrocephalosyndactylia Child Child, Preschool Females Follow-Up Studies Homo sapiens Infant Infant, Newborn Male Obesity Syndrome | ||
| 7 (57.8%) |
20358613 |
RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome. Alessandri JL, Dagoneau N, Laville JM, Baruteau J, Hebert JC, Cormier-Daire V. Am J Med Genet A. 2010;152A(4):982-6. |
| Brachydactyly Cloverleaf skull Broad thumb | ||
| RAB23 | ||
| c|DUP|86|A| rs121908171 | ||
| Base Sequence Child Child, Preschool Chromosome Segregation Comoros DNA Mutational Analysis Family Females Haplotypes Homo sapiens Infant Infant, Newborn Male Molecular Sequence Data Mutation Pregnancy Syndrome rab GTP-Binding Proteins | ||
| 8 (57.8%) |
21148665 |
Extensive aneurysms of sinuses of Valsalva precluding valve sparing aortic root reimplantation (David procedure). Ashoub A, Tang A, Shaktawat S. Interact Cardiovasc Thorac Surg. 2011;12(3):500-1. |
| Micrognathia | ||
| ELN | ||
| Aortic Aneurysm Blood Vessel Prosthesis Implantation Dyspnea Females Heart Valve Prosthesis Implantation Homo sapiens Middle Aged Ultrasonography | ||
| 8 (57.8%) |
7273465 |
Trisomy 6qter. Turleau C, de Grouchy J. Clin Genet. 1981;19(3):202-6. |
| Brachycephaly Micrognathia | ||
| Child Chromosome Banding Chromosomes, Human, 6-12 and X Growth Disorders Homo sapiens Intellectual Disability Male Syndrome Trisomy | ||
| 10 (56.5%) |
8723127 |
Diffuse polymicrogyria associated with an unusual pattern of multiple congenital anomalies including turribrachycephaly and hypogenitalism. Cohn RD, Gillessen-Kaesbach G, Dobyns WB, Kahn T, Lenard HG, Voit T. Am J Med Genet. 1996;63(1):314-7. |
| Blepharophimosis Adducted thumb | ||
| Brain Differential Diagnosis Females Homo sapiens Hypogonadism Infant, Newborn Male Syndrome |
Total: 9
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000263 | Oxycephaly | Very frequent (99-80%) |
| HP:0004440 | Coronal craniosynostosis | Very frequent (99-80%) |
| HP:0004442 | Sagittal craniosynostosis | Very frequent (99-80%) |
| HP:0001085 | Papilledema | Frequent (79-30%) |
| HP:0002308 | Arnold-Chiari malformation | Frequent (79-30%) |
| HP:0002342 | Intellectual disability, moderate | Frequent (79-30%) |
| HP:0002516 | Increased intracranial pressure | Frequent (79-30%) |
| HP:0010864 | Intellectual disability, severe | Frequent (79-30%) |
| HP:0004443 | Lambdoidal craniosynostosis | Occasional (29-5%) |
Total: 84
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001159 | Syndactyly | 19 |
| HP:0000316 | Hypertelorism | 10 |
| HP:0001513 | Obesity | 8 |
| HP:0000248 | Brachycephaly | 6 |
| HP:0000347 | Micrognathia | 6 |
| HP:0001537 | Umbilical hernia | 6 |
| HP:0000028 | Cryptorchidism | 5 |
| HP:0001156 | Brachydactyly | 4 |
| HP:0005280 | Depressed nasal bridge | 4 |
| HP:0000463 | Anteverted nares | 3 |
| HP:0000470 | Short neck | 3 |
| HP:0000508 | Ptosis | 3 |
| HP:0000520 | Proptosis | 3 |
| HP:0000586 | Shallow orbits | 3 |
| HP:0010442 | Polydactyly | 3 |
| HP:0011220 | Prominent forehead | 3 |
| HP:0011304 | Broad thumb | 3 |
| HP:0030799 | Scaphocephaly | 3 |
| HP:0100258 | Preaxial polydactyly | 3 |
| HP:0000054 | Micropenis | 2 |
| HP:0000252 | Microcephaly | 2 |
| HP:0000767 | Pectus excavatum | 2 |
| HP:0000135 | Hypogonadism | 1 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000243 | Trigonocephaly | 1 |
| HP:0000263 | Oxycephaly | 1 |
| HP:0000267 | Cranial asymmetry | 1 |
| HP:0000319 | Smooth philtrum | 1 |
| HP:0000322 | Short philtrum | 1 |
| HP:0000324 | Facial asymmetry | 1 |
| HP:0000341 | Narrow forehead | 1 |
| HP:0000455 | Broad nasal tip | 1 |
| HP:0000465 | Webbed neck | 1 |
| HP:0000518 | Cataract | 1 |
| HP:0000528 | Anophthalmia | 1 |
| HP:0000581 | Blepharophimosis | 1 |
| HP:0000601 | Hypotelorism | 1 |
| HP:0000639 | Nystagmus | 1 |
| HP:0000678 | Dental crowding | 1 |
| HP:0000726 | Dementia | 1 |
| HP:0001059 | Pterygium | 1 |
| HP:0001181 | Adducted thumb | 1 |
| HP:0001249 | Intellectual disability | 1 |
| HP:0001250 | Seizures | 1 |
| HP:0001251 | Ataxia | 1 |
| HP:0001357 | Plagiocephaly | 1 |
| HP:0001518 | Small for gestational age | 1 |
| HP:0001629 | Ventricular septal defect | 1 |
| HP:0001643 | Patent ductus arteriosus | 1 |
| HP:0001822 | Hallux valgus | 1 |
| HP:0001837 | Broad toe | 1 |
| HP:0001840 | Metatarsus adductus | 1 |
| HP:0001848 | Calcaneovalgus deformity | 1 |
| HP:0001884 | Talipes calcaneovalgus | 1 |
| HP:0002010 | Narrow maxilla | 1 |
| HP:0002162 | Low posterior hairline | 1 |
| HP:0002676 | Cloverleaf skull | 1 |
| HP:0002857 | Genu valgum | 1 |
| HP:0003085 | Long fibula | 1 |
| HP:0003196 | Short nose | 1 |
| HP:0004322 | Short stature | 1 |
| HP:0004411 | Deviated nasal septum | 1 |
| HP:0004467 | Preauricular pit | 1 |
| HP:0005487 | Prominent metopic ridge | 1 |
| HP:0005775 | Multiple skeletal anomalies | 1 |
| HP:0006009 | Broad phalanx | 1 |
| HP:0006946 | Recurrent meningitis | 1 |
| HP:0007957 | Corneal opacity | 1 |
| HP:0009381 | Short finger | 1 |
| HP:0010055 | Broad hallux | 1 |
| HP:0010068 | Broad first metatarsal | 1 |
| HP:0010761 | Broad columella | 1 |
| HP:0011325 | Pansynostosis | 1 |
| HP:0011327 | Posterior plagiocephaly | 1 |
| HP:0011800 | Midface retrusion | 1 |
| HP:0012385 | Camptodactyly | 1 |
| HP:0025356 | Psychomotor retardation | 1 |
| HP:0030084 | Clinodactyly | 1 |
| HP:0031912 | Trigeminal anesthesia | 1 |
| HP:0040019 | Finger clinodactyly | 1 |
| HP:0045025 | Narrow palpebral fissure | 1 |
| HP:0100716 | Self-injurious behavior | 1 |
| HP:0200006 | Slanting of the palpebral fissure | 1 |
| HP:0410030 | Cleft lip | 1 |