| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (71.7%) |
6288313 |
Antenatal detection of recurrence of Majewski dwarf (short rib-polydactyly syndrome type II Majewski). Thomson GS, Reynolds CP, Cruickshank J. Clin Radiol. 1982;33(5):509-17. |
| Short ribs Short tibia Cleft lip | ||
| Adult Bone Diseases, Developmental Differential Diagnosis Dwarfism Females Homo sapiens Infant, Newborn Male Pregnancy Syndactyly Syndrome Ultrasonography | ||
| 2 (61.1%) |
19619433 |
Acrocallosal syndrome: a case report and literature survey. Hodgson BD, Davies L, Gonzalez CD. J Dent Child (Chic). 2009;76(2):170-7. |
| Open mouth Retrognathia Short philtrum Polydactyly | ||
| SMG1 | ||
| Acrocallosal Syndrome Child Homo sapiens Male Tooth Abnormalities | ||
| 3 (60.6%) |
7473651 |
Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands. Verloes A, David A, Ngo L, Bottani A. J Med Genet. 1995;32(8):605-11. |
| Microretrognathia Brachydactyly | ||
| Brain Child, Preschool Congenital Foot Deformity Congenital Hand Deformities Females Follow-Up Studies Hamartoma Homo sapiens Magnetic Resonance Imaging Male Time Factors | ||
| 4 (60.5%) |
10190476 |
Oral-facial-digital syndrome with hypothalamic hamartoma, postaxial ray hypoplasia of the limbs, and vagino-cystic communication: a new variant? Fujiwara I, Kondo Y, Iinuma K. Am J Med Genet. 1999;83(2):77-81. |
| Tongue nodules Micrognathia | ||
| Females Hamartoma Homo sapiens Hypothalamic Diseases Infant, Newborn Limb Deformities, Congenital Orofaciodigital Syndromes Vagina | ||
| 5 (59.6%) |
7258228 |
Further delineation of the C (trigonocephaly) syndrome. Antley RM, Hwang DS, Theopold W, Gorlin RJ, Steeper T, Pitt D, Danks DM, McPherson E, Bartels H, Wiedemann HR, Opitz JM. Am J Med Genet. 1981;9(2):147-63. |
| Trigonocephaly Epicanthus Thick anterior alveolar ridges Bridged palmar crease | ||
| Child Females Head Homo sapiens Intellectual Disability Male | ||
| 6 (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 | ||
| 7 (57.8%) |
10406666 |
A 100-year-old anatomical specimen presenting with boomerang-like skeletal dysplasia: diagnostic strategies and outcome. Oostra RJ, Dijkstra PF, Baljet B, Verbeeten BW, Hennekam RC. Am J Med Genet. 1999;85(2):134-9. |
| Brachycephaly Micrognathia | ||
| Bone and Bones Craniofacial Abnormalities Differential Diagnosis Females History, 19th Century Homo sapiens Magnetic Resonance Imaging X-Ray Computed Tomography | ||
| 7 (57.8%) |
9571282 |
Syndactyly, micrognathia and skeletal anomalies: a new syndrome? McGaughran J, Moore L, Russell S, Donnai D. Clin Dysmorphol. 1998;7(2):119-22. |
| Brachycephaly Micrognathia | ||
| Bone and Bones Cleft Palate Craniofacial Abnormalities Females Homo sapiens Male Micrognathism Pregnancy Syndactyly Syndrome Ultrasonography, Prenatal | ||
| 9 (52.6%) |
30098256 |
[Analysis of NIPBL gene mutation in a patient with Cornelia de Lange syndrome]. Mei J, Wang M, Wang X, Yao J. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018;35(4):557-560. |
| Retrognathia Polydactyly | ||
| Cell Cycle Proteins Cornelia De Lange Syndrome Females Genotype Homo sapiens Infant, Newborn Phenotype Pregnancy Proteins Sequence Deletion | ||
| 10 (51.6%) |
1311046 |
[Polysyndactylia with brachymetacarpia (Type Bonola)]. Kunze J, Lenz W, Sugiura Y, Yang TS. Klin Padiatr. 1992;204(1):43-7. |
| Short thumb | ||
| Adult Child Congenital Foot Deformity Females Genes, Recessive Homo sapiens Male Syndactyly Syndrome |
Total: 0
| HPO ID | Term | Frequency |
|---|
Total: 78
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000316 | Hypertelorism | 9 |
| HP:0000256 | Macrocephaly | 7 |
| HP:0010442 | Polydactyly | 7 |
| HP:0000243 | Trigonocephaly | 4 |
| HP:0002444 | Hypothalamic hamartoma | 4 |
| HP:0000252 | Microcephaly | 3 |
| HP:0000347 | Micrognathia | 3 |
| HP:0000568 | Microphthalmia | 3 |
| HP:0000773 | Short ribs | 3 |
| HP:0001199 | Triphalangeal thumb | 3 |
| HP:0025356 | Psychomotor retardation | 3 |
| HP:0100258 | Preaxial polydactyly | 3 |
| HP:0000028 | Cryptorchidism | 2 |
| HP:0000248 | Brachycephaly | 2 |
| HP:0000369 | Low-set ears | 2 |
| HP:0000486 | Strabismus | 2 |
| HP:0000582 | Upslanted palpebral fissure | 2 |
| HP:0001156 | Brachydactyly | 2 |
| HP:0001159 | Syndactyly | 2 |
| HP:0001274 | Agenesis of corpus callosum | 2 |
| HP:0001762 | Talipes equinovarus | 2 |
| HP:0004322 | Short stature | 2 |
| HP:0000076 | Vesicoureteral reflux | 1 |
| HP:0000126 | Hydronephrosis | 1 |
| HP:0000180 | Lobulated tongue | 1 |
| HP:0000199 | Tongue nodules | 1 |
| HP:0000218 | High palate | 1 |
| HP:0000263 | Oxycephaly | 1 |
| HP:0000278 | Retrognathia | 1 |
| HP:0000286 | Epicanthus | 1 |
| HP:0000324 | Facial asymmetry | 1 |
| HP:0000470 | Short neck | 1 |
| HP:0000508 | Ptosis | 1 |
| HP:0000589 | Coloboma | 1 |
| HP:0000954 | Single transverse palmar crease | 1 |
| HP:0001250 | Seizures | 1 |
| HP:0001276 | Hypertonia | 1 |
| HP:0001373 | Joint dislocation | 1 |
| HP:0001528 | Hemihypertrophy | 1 |
| HP:0001537 | Umbilical hernia | 1 |
| HP:0001612 | Weak cry | 1 |
| HP:0001888 | Lymphopenia | 1 |
| HP:0001952 | Glucose intolerance | 1 |
| HP:0002003 | Large forehead | 1 |
| HP:0002007 | Frontal bossing | 1 |
| HP:0002023 | Anal atresia | 1 |
| HP:0002033 | Poor suck | 1 |
| HP:0002059 | Cerebral atrophy | 1 |
| HP:0002119 | Ventriculomegaly | 1 |
| HP:0002808 | Kyphosis | 1 |
| HP:0002983 | Micromelia | 1 |
| HP:0003038 | Fibular hypoplasia | 1 |
| HP:0003196 | Short nose | 1 |
| HP:0003298 | Spina bifida occulta | 1 |
| HP:0003498 | Disproportionate short stature | 1 |
| HP:0003764 | Nevus | 1 |
| HP:0005562 | Multiple renal cysts | 1 |
| HP:0005716 | Lethal skeletal dysplasia | 1 |
| HP:0005736 | Short tibia | 1 |
| HP:0007957 | Corneal opacity | 1 |
| HP:0008080 | Hallux varus | 1 |
| HP:0008110 | Equinovarus deformity | 1 |
| HP:0009100 | Thick anterior alveolar ridges | 1 |
| HP:0009778 | Short thumb | 1 |
| HP:0010564 | Bifid epiglottis | 1 |
| HP:0010740 | Osteopathia striata | 1 |
| HP:0010783 | Erythema | 1 |
| HP:0011310 | Bridged palmar crease | 1 |
| HP:0011330 | Metopic synostosis | 1 |
| HP:0011451 | Congenital microcephaly | 1 |
| HP:0012165 | Oligodactyly | 1 |
| HP:0012725 | Cutaneous syndactyly | 1 |
| HP:0030010 | Hydrometrocolpos | 1 |
| HP:0030084 | Clinodactyly | 1 |
| HP:0100259 | Postaxial polydactyly | 1 |
| HP:0100267 | Lip pit | 1 |
| HP:0200055 | Small hand | 1 |
| HP:0410030 | Cleft lip | 1 |