| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (63.8%) |
2929657 |
A new syndrome with distinct facial and auricular malformations and dominant inheritance. Simosa V, Penchaszadeh VB, Bustos T. Am J Med Genet. 1989;32(2):184-6. |
| Long philtrum Telecanthus Deviation of finger | ||
| Adult Child Chromosome Aberrations External Ear Females Follow-Up Studies Genes, Dominant Homo sapiens Male Phenotype Syndrome | ||
| 2 (63.5%) |
12134659 |
[Anesthetic management of an infant with Freeman-Sheldon syndrome]. Okawa M, Kinouchi K, Kitamura S, Taniguchi A, Sasaoka N, Fukumitsu K. Masui. 2002;51(6):659-62. |
| Micrognathia Blepharophimosis | ||
| Arthrogryposis Blepharophimosis Craniofacial Abnormalities Fatal Outcome General Anesthesia Homo sapiens Infant Male Microstomia Perioperative Care Syndrome | ||
| 3 (60.2%) |
7825240 |
Whistling face (Freeman-Sheldon) syndrome in two siblings. Bekir N, Bayraktaroglu Z, Coskun Y, Karaaslan C. Turk J Pediatr. 1994;36(4):329-32. |
| Epicanthus Long philtrum Scoliosis Polydactyly | ||
| Child Child, Preschool Craniofacial Dysostosis Face Females Homo sapiens Male Syndrome | ||
| 4 (57.8%) |
7861610 |
[Anesthetic management of a patient with Freeman-Sheldon syndrome]. Yamamoto S, Osuga T, Okada M, Hashimoto T, Shigematsu H, Suzuki S, Fujita K, Matsumoto N, Hori T. Masui. 1994;43(11):1748-53. |
| Micrognathia | ||
| Child Congenital Foot Deformity Congenital Hand Deformities Face Females General Anesthesia Homo sapiens Intubation, Intratracheal Microstomia Syndrome | ||
| 4 (57.8%) |
3719442 |
Freeman-Sheldon syndrome: report of three cases and the anaesthetic implications. Laishley RS, Roy WL. Can Anaesth Soc J. 1986;33(3 Pt 1):388-93. |
| Micrognathia | ||
| Bone and Bones Child Child, Preschool Face Females Homo sapiens Infant Male Myopathy Syndrome | ||
| 6 (52.4%) |
20924721 |
p.R672C mutation of MYH3 gene in an Egyptian infant presented with Freeman-Sheldon syndrome. Al-Haggar M, Yahia S, Damjanovich K, Ahmad N, Hamada I, Bayrak-Toydemir P. Indian J Pediatr. 2011;78(1):103-5. |
| Long philtrum Talipes equinovarus | ||
| MYH3 | ||
| c|SUB|C|2014|T;RS#:121913618 p|SUB|R|672|C;RS#:121913618 | ||
| Craniofacial Dysostosis Cytoskeletal Proteins Egypt Homo sapiens Infant Male Mutation Phenotype | ||
| 6 (52.4%) |
20012803 |
Freeman-Sheldon syndrome--prenatal and postnatal diagnosis. Hegde SS, Shetty MS, Rama Murthy BS. Indian J Pediatr. 2010;77(2):196-7. |
| Mask-like facies Long philtrum Talipes equinovarus | ||
| Arthrogryposis Cytoskeletal Proteins Facies Females Foot Deformities Homo sapiens Infant, Newborn Knee Pregnancy Syndrome | ||
| 6 (52.4%) |
7199706 |
Autosomal recessive type of whistling face syndrome in twins. Kousseff BG, McConnachie P, Hadro TA. Pediatrics. 1982;69(3):328-31. |
| Prominent supraorbital ridges Long philtrum Bilateral talipes equinovarus | ||
| Chromosome Aberrations Congenital Foot Deformity Congenital Hand Deformities Diseases in Twins Face Females Genes, Recessive Homo sapiens Infant, Newborn Pregnancy Syndrome | ||
| 9 (47.6%) |
29314551 |
A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions. Scala M, Accogli A, De Grandis E, Allegri A, Bagowski CP, Shoukier M, Maghnie M, Capra V. Am J Med Genet A. 2018;176(3):663-667. |
| Calcaneovalgus deformity Vertebral fusion Prominent nasolabial fold | ||
| MYH3 TNNI2 TNNT3 TPM2 | ||
| Arthrogryposis Child Cytoskeletal Proteins Facies Genetic Association Studies Genetic Predisposition to Disease Homo sapiens Male Mutation Phenotype | ||
| 10 (45.9%) |
24225909 |
Improving oral function and cosmesis in a case of Freeman-Sheldon syndrome. Vyas V, Agha R, Ahmad T. BMJ Case Rep. 2013;2013:. |
| Long philtrum Kyphoscoliosis | ||
| Child Craniofacial Dysostosis Females Homo sapiens Microstomia Mouth Abnormalities Reconstructive Surgical Procedures |
Total: 31
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000160 | Narrow mouth | Very frequent (99-80%) |
| HP:0000164 | Abnormality of the dentition | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000430 | Underdeveloped nasal alae | Very frequent (99-80%) |
| HP:0000431 | Wide nasal bridge | Very frequent (99-80%) |
| HP:0000457 | Depressed nasal ridge | Very frequent (99-80%) |
| HP:0000494 | Downslanted palpebral fissures | Very frequent (99-80%) |
| HP:0001387 | Joint stiffness | Very frequent (99-80%) |
| HP:0001508 | Failure to thrive | Very frequent (99-80%) |
| HP:0001510 | Growth delay | Very frequent (99-80%) |
| HP:0001762 | Talipes equinovarus | Very frequent (99-80%) |
| HP:0002650 | Scoliosis | Very frequent (99-80%) |
| HP:0008872 | Feeding difficulties in infancy | Very frequent (99-80%) |
| HP:0009465 | Ulnar deviation of finger | Very frequent (99-80%) |
| HP:0010751 | Dimple chin | Very frequent (99-80%) |
| HP:0100490 | Camptodactyly of finger | Very frequent (99-80%) |
| HP:0000028 | Cryptorchidism | Frequent (79-30%) |
| HP:0000343 | Long philtrum | Frequent (79-30%) |
| HP:0000365 | Hearing impairment | Frequent (79-30%) |
| HP:0000486 | Strabismus | Frequent (79-30%) |
| HP:0000490 | Deeply set eye | Frequent (79-30%) |
| HP:0000508 | Ptosis | Frequent (79-30%) |
| HP:0001557 | Prenatal movement abnormality | Frequent (79-30%) |
| HP:0001611 | Nasal speech | Frequent (79-30%) |
| HP:0002047 | Malignant hyperthermia | Frequent (79-30%) |
| HP:0002167 | Neurological speech impairment | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0001561 | Polyhydramnios | Occasional (29-5%) |
| HP:0001562 | Oligohydramnios | Occasional (29-5%) |
| HP:0010489 | Absent palmar crease | Occasional (29-5%) |
| HP:0100790 | Hernia | Occasional (29-5%) |
Total: 25
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002047 | Malignant hyperthermia | 5 |
| HP:0002803 | Congenital contracture | 3 |
| HP:0012385 | Camptodactyly | 3 |
| HP:0000343 | Long philtrum | 2 |
| HP:0001762 | Talipes equinovarus | 2 |
| HP:0002751 | Kyphoscoliosis | 2 |
| HP:0009487 | Ulnar deviation of the hand | 2 |
| HP:0000201 | Pierre-Robin sequence | 1 |
| HP:0000234 | Abnormality of the head | 1 |
| HP:0000316 | Hypertelorism | 1 |
| HP:0000465 | Webbed neck | 1 |
| HP:0000581 | Blepharophimosis | 1 |
| HP:0000822 | Hypertension | 1 |
| HP:0001371 | Flexion contracture | 1 |
| HP:0001601 | Laryngomalacia | 1 |
| HP:0001824 | Weight loss | 1 |
| HP:0002015 | Dysphagia | 1 |
| HP:0002063 | Rigidity | 1 |
| HP:0002098 | Respiratory distress | 1 |
| HP:0002104 | Apnea | 1 |
| HP:0002650 | Scoliosis | 1 |
| HP:0002781 | Upper airway obstruction | 1 |
| HP:0002828 | Multiple joint contractures | 1 |
| HP:0003198 | Myopathy | 1 |
| HP:0009465 | Ulnar deviation of finger | 1 |