| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (60.8%) |
10517476 |
Bartsocas-Papas syndrome with fusion of the lips and posterior fusion defects of the thoracic vertebrae. Mavili ME, Karamursel S, Vargel I, Erk Y. Ann Plast Surg. 1999;43(4):443-5. |
| Microcephaly Syndactyly Ankyloblepharon Fused lips | ||
| Craniofacial Abnormalities Females Homo sapiens Infant Syndrome | ||
| 2 (56.6%) |
22876587 |
Bartsocas-Papas syndrome with variable expressivity in an Egyptian family. Zaki MS, Kamel AK, Effat LK, El-Ruby MO. Genet Couns. 2012;23(2):269-79. |
| Oral cleft Syndactyly Ankyloblepharon | ||
| IRF6 | ||
| Child, Preschool Cleft Palate Cyst Egypt Fatal Outcome Females Homo sapiens Infant, Newborn Interferon Regulatory Factors | ||
| 3 (54.5%) |
9738862 |
Bartsocas-Papas syndrome in an Arab family with four affected sibs: further characterization. Massoud AA, Ammaari AN, Khan AS, ven Katraman B, Teebi AS. Am J Med Genet. 1998;79(1):16-21. |
| Microcephaly Syndactyly Ankyloblepharon | ||
| Craniofacial Abnormalities Females Homo sapiens Infant, Newborn Male Syndrome | ||
| 4 (52.1%) |
17457955 |
Prenatal diagnosis of a Turkish Bartsocas-Papas syndrome case with upper limb pterigia. Ceylaner G, Guven MA, Ceylaner S, Uzel M, Muftuoglu K. Prenat Diagn. 2007;27(6):563-5. |
| Syndactyly Ankyloblepharon | ||
| Amniocentesis Craniofacial Abnormalities Females Homo sapiens Pregnancy Syndrome Ultrasonography, Prenatal | ||
| 4 (52.1%) |
12575021 |
First-trimester diagnosis of Bartsocas-Papas syndrome (BPS) by transvaginal ultrasound: case report and review of the literature. Dolan SM, Shanske AL, Marion RW, Gross SJ. Prenat Diagn. 2003;23(2):138-42. |
| Syndactyly Ankyloblepharon | ||
| Adult Craniofacial Abnormalities Females Fetal Death Homo sapiens Limb Deformities, Congenital Male Pregnancy Pregnancy Trimester, First Syndrome Ultrasonography, Prenatal | ||
| 6 (42.3%) |
23610050 |
Exome analysis in clinical practice: expanding the phenotype of Bartsocas-Papas syndrome. Gripp KW, Ennis S, Napoli J. Am J Med Genet A. 2013;161A(5):1058-63. |
| Pterygium Ankyloblepharon | ||
| RIPK4 | ||
| c|SUB|G|488|A;RS#:764278537 p|SUB|G|163|D;RS#:764278537 rs764278537 | ||
| Cleft Palate Differential Diagnosis Ectodermal Dysplasia Exome Eye Abnormalities Females Homo sapiens Homozygote Knee Mutation Phenotype Pregnancy Protein-Serine-Threonine Kinases Syndactyly | ||
| 7 (31.0%) |
25275471 |
Bartsocas-Papas Syndrome: A Case Report and Review of the Literature. Erturan G, Holton J, Wall S, Giele H. Ann Plast Surg. 2016;76(4):459-62. |
| Syndactyly | ||
| Child Cleft Palate Eye Abnormalities Homo sapiens Knee Male Reconstructive Surgical Procedures Syndactyly | ||
| 7 (31.0%) |
23074676 (3447233) |
Bartsocas-papas syndrome: unusual findings in the first reported egyptian family. Abdalla EM, Morsy H. Case Rep Genet. 2011;2011:428714. |
| Microphthalmia Pterygium Syndactyly | ||
| 7 (31.0%) |
16925011 |
Craniofacial characteristics evidenced in Bartsocas-Papas syndrome from birth to five years. Case report. Maganzini AL, Rios A, Shanske A. N Y State Dent J. 2006;72(4):34-7. |
| Syndactyly | ||
| Ankylosis Cephalometry Child, Preschool Cleft Palate Craniofacial Abnormalities Follow-Up Studies Homo sapiens Infant Infant, Newborn Lower Extremity Deformities, Congenital Male Mandible Maxilla Maxillofacial Development Syndrome Temporomandibular Joint Disorders X-Ray Computed Tomography | ||
| 10 (30.8%) |
14608644 |
Unreported manifestations in two Dutch families with Bartsocas-Papas syndrome. Veenstra-Knol HE, Kleibeuker A, Timmer A, ten Kate LP, van Essen AJ. Am J Med Genet A. 2003;123A(3):243-8. |
| Ankyloblepharon | ||
| Craniofacial Abnormalities Face Fatal Outcome Females Fetal Death Genes, Recessive Homo sapiens Infant, Newborn Male Netherlands Syndrome |
Total: 26
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000050 | Hypoplastic male external genitalia | Very frequent (99-80%) |
| HP:0000062 | Ambiguous genitalia | Very frequent (99-80%) |
| HP:0000161 | Median cleft lip | Very frequent (99-80%) |
| HP:0000175 | Cleft palate | Very frequent (99-80%) |
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0001770 | Toe syndactyly | Very frequent (99-80%) |
| HP:0001800 | Hypoplastic toenails | Very frequent (99-80%) |
| HP:0001883 | Talipes | Very frequent (99-80%) |
| HP:0006101 | Finger syndactyly | Very frequent (99-80%) |
| HP:0007418 | Alopecia totalis | Very frequent (99-80%) |
| HP:0009755 | Ankyloblepharon | Very frequent (99-80%) |
| HP:0009756 | Popliteal pterygium | Very frequent (99-80%) |
| HP:0010185 | Aplasia/Hypoplasia of the distal phalanges of the toes | Very frequent (99-80%) |
| HP:0100240 | Synostosis of joints | Very frequent (99-80%) |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | Very frequent (99-80%) |
| HP:0200102 | Sparse or absent eyelashes | Very frequent (99-80%) |
| HP:0000160 | Narrow mouth | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0000430 | Underdeveloped nasal alae | Frequent (79-30%) |
| HP:0000625 | Eyelid coloboma | Frequent (79-30%) |
| HP:0001249 | Intellectual disability | Frequent (79-30%) |
| HP:0003196 | Short nose | Frequent (79-30%) |
| HP:0007957 | Corneal opacity | Frequent (79-30%) |
| HP:0009777 | Absent thumb | Frequent (79-30%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Occasional (29-5%) |
| HP:0008678 | Renal hypoplasia/aplasia | Occasional (29-5%) |
Total: 9
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001159 | Syndactyly | 2 |
| HP:0009755 | Ankyloblepharon | 2 |
| HP:0000252 | Microcephaly | 1 |
| HP:0000568 | Microphthalmia | 1 |
| HP:0001059 | Pterygium | 1 |
| HP:0001562 | Oligohydramnios | 1 |
| HP:0002023 | Anal atresia | 1 |
| HP:0009756 | Popliteal pterygium | 1 |
| HP:0012745 | Short palpebral fissure | 1 |