| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (70.8%) |
22308873 |
Multiple pterygium syndrome: mimicking the findings of Turner syndrome. Guven A, Kirmizibekmez H. J Pediatr Endocrinol Metab. 2011;24(11-12):1089-93. |
| Long philtrum Micrognathia Upslanted palpebral fissure | ||
| Body Height Child Differential Diagnosis Facies Females Homo sapiens Skin Abnormalities Turner Syndrome | ||
| 2 (63.5%) |
10925380 |
Autosomal recessive multiple pterygium syndrome: a new variant? Aslan Y, Erduran E, Kutlu N. Am J Med Genet. 2000;93(3):194-7. |
| Micrognathia Blepharophimosis | ||
| rs387906923 | ||
| Alopecia Bone and Bones Congenital Foot Deformity Congenital Hand Deformities Facies Females Fetal Death Genes, Recessive Homo sapiens Infant Infant, Newborn Male Nose Syndactyly Syndrome Tongue | ||
| 2 (63.5%) |
8770680 |
Otolaryngologic manifestations of multiple pterygium syndrome. MacArthur CJ, Pereira S. Int J Pediatr Otorhinolaryngol. 1996;34(1-2):135-40. |
| Micrognathia Slanting of the palpebral fissure | ||
| Airway Obstruction Congenital Hand Deformities Face Females Gastrostomy Homo sapiens Infant Neck Otorhinolaryngologic Diseases Syndrome | ||
| 4 (45.9%) |
25610221 |
Escobar syndrome mimicing congenital patellar syndrome. Ezirmik N, Yildiz K, Can CE. Eurasian J Med. 2012;44(2):117-21. |
| Ptosis Patellar aplasia | ||
| 5 (40.1%) |
15704180 |
Escobar variant with pursed mouth, creased tongue, ophthalmologic features, and scoliosis in 6 children from Oman. Rajab A, Hoffmann K, Ganesh A, Sethu AU, Mundlos S. Am J Med Genet A. 2005;134A(2):151-7. |
| Furrowed tongue Pterygium Scoliosis | ||
| CDKN2B TNNI2 TNNT3 TPM2 | ||
| rs267606725 | ||
| Child Child, Preschool Congenital Hand Deformities Differential Diagnosis Eye Abnormalities Females Homo sapiens Infant Infant, Newborn Male Oman Syndrome Tongue | ||
| 6 (31.4%) |
28267910 |
[Surgical management of spinal deformity in a patient with Escobar syndrome: review of the literature]. Hernandez-Hernandez MC, Canales-Najera JA, De La Cruz-Alvarez JS, Tena-Zanabria ME, Matus-Jimenez J. Acta Ortop Mex. 2016;30(4):196-200. |
| Multiple pterygia Congenital hip dislocation Scoliosis | ||
| Child Females Homo sapiens Skin Abnormalities | ||
| 6 (31.4%) |
24472885 |
Nonlethal multiple pterygium syndrome: Escobar syndrome. Bissinger RL, Koch FR. Adv Neonatal Care. 2014;14(1):24-9. |
| Pterygium Scoliosis Hip subluxation | ||
| CHRNG | ||
| Arthrogryposis Females Homo sapiens Infant, Newborn Nicotinic Receptors Skin Abnormalities | ||
| 8 (31.0%) |
9436410 |
[A case of multiple pterygium syndrome (Escobar) with horseshoe kidney]. Hayashi M, Maruki K, Maruki K. No To Hattatsu. 1998;30(1):61-4. |
| Horseshoe kidney Pterygium Syndactyly | ||
| Adult Contracture Elbow Growth Disorders Homo sapiens Kidney Male Syndrome | ||
| 9 (23.3%) |
24791932 |
Clinicoradiological correlation of scoliosis in children with Jarcho-Levin and Escobar syndromes: associated "flat bone or wing-like" imaging findings. Bosemani T, Poretti A, Benson JE, Meyer-Heim A, Huisman TA. Eur J Pediatr. 2014;173(10):1377-80. |
| Scoliosis | ||
| Child, Preschool Congenital Heart Defects Diaphragmatic Hernia Females Homo sapiens Infant Infant, Newborn Magnetic Resonance Imaging Skin Abnormalities X-Ray Computed Tomography | ||
| 9 (23.3%) |
21541234 (3085429) |
Anesthesic management for escobar syndrome: case report. Arpaci AH, Bozkirli F, Konuk O. Case Rep Med. 2011;2011:515719. |
| Ptosis Pterygium Spinal deformities | ||
Total: 65
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000465 | Webbed neck | Very frequent (99-80%) |
| HP:0000766 | Abnormality of the sternum | Very frequent (99-80%) |
| HP:0000767 | Pectus excavatum | Very frequent (99-80%) |
| HP:0001040 | Multiple pterygia | Very frequent (99-80%) |
| HP:0001060 | Axillary pterygium | Very frequent (99-80%) |
| HP:0001376 | Limitation of joint mobility | Very frequent (99-80%) |
| HP:0002650 | Scoliosis | Very frequent (99-80%) |
| HP:0006101 | Finger syndactyly | Very frequent (99-80%) |
| HP:0009756 | Popliteal pterygium | Very frequent (99-80%) |
| HP:0009760 | Antecubital pterygium | Very frequent (99-80%) |
| HP:0009773 | Symphalangism affecting the phalanges of the hand | Very frequent (99-80%) |
| HP:0000135 | Hypogonadism | Frequent (79-30%) |
| HP:0000202 | Oral cleft | Frequent (79-30%) |
| HP:0000218 | High palate | Frequent (79-30%) |
| HP:0000252 | Microcephaly | Frequent (79-30%) |
| HP:0000276 | Long face | Frequent (79-30%) |
| HP:0000286 | Epicanthus | Frequent (79-30%) |
| HP:0000307 | Pointed chin | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000324 | Facial asymmetry | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0000365 | Hearing impairment | Frequent (79-30%) |
| HP:0000369 | Low-set ears | Frequent (79-30%) |
| HP:0000492 | Abnormal eyelid morphology | Frequent (79-30%) |
| HP:0000494 | Downslanted palpebral fissures | Frequent (79-30%) |
| HP:0000506 | Telecanthus | Frequent (79-30%) |
| HP:0000508 | Ptosis | Frequent (79-30%) |
| HP:0001511 | Intrauterine growth retardation | Frequent (79-30%) |
| HP:0001537 | Umbilical hernia | Frequent (79-30%) |
| HP:0001760 | Abnormality of the foot | Frequent (79-30%) |
| HP:0002643 | Neonatal respiratory distress | Frequent (79-30%) |
| HP:0002804 | Arthrogryposis multiplex congenita | Frequent (79-30%) |
| HP:0003422 | Vertebral segmentation defect | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0008065 | Aplasia/Hypoplasia of the skin | Frequent (79-30%) |
| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature | Frequent (79-30%) |
| HP:0011842 | Abnormality of skeletal morphology | Frequent (79-30%) |
| HP:0100022 | Abnormality of movement | Frequent (79-30%) |
| HP:0100490 | Camptodactyly of finger | Frequent (79-30%) |
| HP:0000023 | Inguinal hernia | Occasional (29-5%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000046 | Scrotal hypoplasia | Occasional (29-5%) |
| HP:0000157 | Abnormality of the tongue | Occasional (29-5%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0000268 | Dolichocephaly | Occasional (29-5%) |
| HP:0000343 | Long philtrum | Occasional (29-5%) |
| HP:0000364 | Hearing abnormality | Occasional (29-5%) |
| HP:0000405 | Conductive hearing impairment | Occasional (29-5%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0000902 | Rib fusion | Occasional (29-5%) |
| HP:0001059 | Pterygium | Occasional (29-5%) |
| HP:0001288 | Gait disturbance | Occasional (29-5%) |
| HP:0001508 | Failure to thrive | Occasional (29-5%) |
| HP:0001646 | Abnormal aortic valve morphology | Occasional (29-5%) |
| HP:0001724 | obsolete Aortic dilatation | Occasional (29-5%) |
| HP:0002089 | Pulmonary hypoplasia | Occasional (29-5%) |
| HP:0002162 | Low posterior hairline | Occasional (29-5%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Occasional (29-5%) |
| HP:0003202 | Skeletal muscle atrophy | Occasional (29-5%) |
| HP:0003298 | Spina bifida occulta | Occasional (29-5%) |
| HP:0003764 | Nevus | Occasional (29-5%) |
| HP:0008729 | Absence of labia majora | Occasional (29-5%) |
| HP:0008736 | Hypoplasia of penis | Occasional (29-5%) |
| HP:0012718 | Morphological abnormality of the gastrointestinal tract | Occasional (29-5%) |
| HP:0100543 | Cognitive impairment | Occasional (29-5%) |
Total: 26
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001059 | Pterygium | 6 |
| HP:0001040 | Multiple pterygia | 4 |
| HP:0002650 | Scoliosis | 4 |
| HP:0002828 | Multiple joint contractures | 3 |
| HP:0008443 | Spinal deformities | 3 |
| HP:0004322 | Short stature | 2 |
| HP:0000316 | Hypertelorism | 1 |
| HP:0000343 | Long philtrum | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000369 | Low-set ears | 1 |
| HP:0000508 | Ptosis | 1 |
| HP:0000582 | Upslanted palpebral fissure | 1 |
| HP:0001159 | Syndactyly | 1 |
| HP:0001324 | Muscle weakness | 1 |
| HP:0001371 | Flexion contracture | 1 |
| HP:0002027 | Abdominal pain | 1 |
| HP:0002162 | Low posterior hairline | 1 |
| HP:0002751 | Kyphoscoliosis | 1 |
| HP:0002754 | Osteomyelitis | 1 |
| HP:0002803 | Congenital contracture | 1 |
| HP:0002967 | Cubitus valgus | 1 |
| HP:0005659 | Thoracic kyphoscoliosis | 1 |
| HP:0006443 | Patellar aplasia | 1 |
| HP:0010442 | Polydactyly | 1 |
| HP:0011947 | Respiratory tract infection | 1 |
| HP:0030011 | Imperforate hymen | 1 |