| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (65.0%) |
22591433 |
Schwartz-Jampel syndrome: a review of the literature and case report. Mallineni SK, Yiu CK, King NM. Spec Care Dentist. 2012;32(3):105-11. |
| Pursed lips Micrognathia Blepharophimosis | ||
| Child, Preschool Dental Care for Chronically Ill Dental Enamel Dentin Follow-Up Studies Homo sapiens Male Osteochondrodysplasias Tooth Abnormalities Tooth Attrition Tooth Crowns | ||
| 2 (63.5%) |
26436077 (4581134) |
The Schwartz-Jampel syndrome: Case report and review of literature. Basiri K, Fatehi F, Katirji B. Adv Biomed Res. 2015;4:163. |
| Micrognathia Blepharophimosis | ||
| 2 (63.5%) |
12221624 |
[Schwartz-Jampel syndrome: a description of two adult siblings]. Carod-Artal FJ, Fernandes da Silva TV, Christino-Marinho PB, Bonfim-Souza D. Rev Neurol. 2002;35(2):131-4. |
| Micrognathia Blepharophimosis | ||
| Adult Electromyography Females Homo sapiens Lumbosacral Region Male Middle Aged Osteochondrodysplasias | ||
| 2 (63.5%) |
7137221 |
Chondrodystrophic myotonia (Schwartz-Jampel syndrome): report of a new case and follow-up of patients initially reported in 1969. Edwards WC, Root AW. Am J Med Genet. 1982;13(1):51-6. |
| Micrognathia Blepharophimosis | ||
| GH1 | ||
| Child Child, Preschool Facial Expression Females Follow-Up Studies Genes, Recessive Growth Disorders Homo sapiens Infant Male Syndrome | ||
| 2 (63.5%) |
6297028 |
[Craniofacial dysmorphism with flexion of the fingers. Marden-Walker syndrome?]. Kubryk N, Borde M. Sem Hop. 1982;58(41):2405-7. |
| Micrognathia Blepharophimosis | ||
| Face Fingers Homo sapiens Infant, Newborn Male Microcephaly Muscle Hypertonia Syndrome | ||
| 6 (60.7%) |
11038441 |
Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease. Spranger J, Hall BD, Hane B, Srivastava A, Stevenson RE. Am J Med Genet. 2000;94(4):287-95. |
| Pursed lips Micrognathia Bowing of the long bones | ||
| Bone Diseases, Developmental Child, Preschool Face Females Femur Follow-Up Studies Genes, Recessive Homo sapiens Infant Male Myotonic Disorders Osteochondritis Osteochondrodysplasias | ||
| 7 (57.8%) |
16389541 |
[Intraoperative and postoperative analgesia with a caudal catheter in a child suffering from Schwartz-Jampel syndrome]. Stevens MF, Golla E, Lipfert P. Anaesthesist. 2006;55(5):555-60. |
| Micrognathia | ||
| Amides Anesthesia, Caudal Catheterization Child, Preschool Females Homo sapiens Intubation, Intratracheal Laryngoscopy Local Anesthetics Osteochondrodysplasias Osteotomy Pain, Postoperative Preanesthetic Medication Psychomotor Disorders | ||
| 7 (57.8%) |
11930277 |
Resistance to rocuronium in a child with Schwartz-Jampel syndrome type 1 B. Eikermann M, Bredendiek M, Schaper J, Hovel M, Peters J. Neuropediatrics. 2002;33(1):43-6. |
| Micrognathia | ||
| HSPG2 | ||
| Androstanols Child, Preschool Dose-Response Relationship, Drug Homo sapiens Male Neuromuscular Nondepolarizing Agents Osteochondrodysplasias | ||
| 9 (57.3%) |
1227520 |
Probable Marden-Walker syndrome: evidence for autosomal recessive inheritance. Temtamy SA, Shoukry AS, Raafat M, Mihareb S. Birth Defects Orig Artic Ser. 1975;11(2):104-8. |
| Blepharophimosis Arachnodactyly Kyphoscoliosis | ||
| Child, Preschool Contracture Genes, Recessive Growth Disorders Homo sapiens Intellectual Disability Male Myopathy Phenotype Syndrome | ||
| 10 (54.6%) |
8888056 |
Neonatal diagnosis of Schwartz-Jampel syndrome with dramatic response to carbamazepine. Squires LA, Prangley J. Pediatr Neurol. 1996;15(2):172-4. |
| Blepharophimosis Pectus carinatum Bowing of the long bones | ||
| Anticonvulsants Females Follow-Up Studies Homo sapiens Infant Infant, Newborn Infant, Premature, Diseases Neurologic Examination Osteochondrodysplasias |
Total: 112
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000160 | Narrow mouth | Very frequent (99-80%) |
| HP:0000205 | Pursed lips | Very frequent (99-80%) |
| HP:0000211 | Trismus | Very frequent (99-80%) |
| HP:0000232 | Everted lower lip vermilion | Very frequent (99-80%) |
| HP:0000293 | Full cheeks | Very frequent (99-80%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Very frequent (99-80%) |
| HP:0000505 | Visual impairment | Very frequent (99-80%) |
| HP:0000944 | Abnormality of the metaphysis | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001276 | Hypertonia | Very frequent (99-80%) |
| HP:0001288 | Gait disturbance | Very frequent (99-80%) |
| HP:0001385 | Hip dysplasia | Very frequent (99-80%) |
| HP:0001387 | Joint stiffness | Very frequent (99-80%) |
| HP:0001763 | Pes planus | Very frequent (99-80%) |
| HP:0002486 | Myotonia | Very frequent (99-80%) |
| HP:0002652 | Skeletal dysplasia | Very frequent (99-80%) |
| HP:0002804 | Arthrogryposis multiplex congenita | Very frequent (99-80%) |
| HP:0002857 | Genu valgum | Very frequent (99-80%) |
| HP:0002983 | Micromelia | Very frequent (99-80%) |
| HP:0003236 | Elevated serum creatine kinase | Very frequent (99-80%) |
| HP:0003457 | EMG abnormality | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0005930 | Abnormality of epiphysis morphology | Very frequent (99-80%) |
| HP:0006487 | Bowing of the long bones | Very frequent (99-80%) |
| HP:0010508 | Metatarsus valgus | Very frequent (99-80%) |
| HP:0012544 | Elevated aldolase level | Very frequent (99-80%) |
| HP:0000218 | High palate | Frequent (79-30%) |
| HP:0000298 | Mask-like facies | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0000396 | Overfolded helix | Frequent (79-30%) |
| HP:0000426 | Prominent nasal bridge | Frequent (79-30%) |
| HP:0000470 | Short neck | Frequent (79-30%) |
| HP:0000486 | Strabismus | Frequent (79-30%) |
| HP:0000508 | Ptosis | Frequent (79-30%) |
| HP:0000518 | Cataract | Frequent (79-30%) |
| HP:0000534 | Abnormal eyebrow morphology | Frequent (79-30%) |
| HP:0000545 | Myopia | Frequent (79-30%) |
| HP:0000581 | Blepharophimosis | Frequent (79-30%) |
| HP:0000600 | Abnormality of the pharynx | Frequent (79-30%) |
| HP:0000768 | Pectus carinatum | Frequent (79-30%) |
| HP:0000926 | Platyspondyly | Frequent (79-30%) |
| HP:0000939 | Osteoporosis | Frequent (79-30%) |
| HP:0001239 | Wrist flexion contracture | Frequent (79-30%) |
| HP:0001265 | Hyporeflexia | Frequent (79-30%) |
| HP:0001620 | High pitched voice | Frequent (79-30%) |
| HP:0001621 | Weak voice | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0002673 | Coxa valga | Frequent (79-30%) |
| HP:0002808 | Kyphosis | Frequent (79-30%) |
| HP:0002812 | Coxa vara | Frequent (79-30%) |
| HP:0003044 | Shoulder flexion contracture | Frequent (79-30%) |
| HP:0003198 | Myopathy | Frequent (79-30%) |
| HP:0003273 | Hip contracture | Frequent (79-30%) |
| HP:0003306 | Spinal rigidity | Frequent (79-30%) |
| HP:0003307 | Hyperlordosis | Frequent (79-30%) |
| HP:0003712 | Skeletal muscle hypertrophy | Frequent (79-30%) |
| HP:0005830 | Flexion contracture of toe | Frequent (79-30%) |
| HP:0012368 | Flat face | Frequent (79-30%) |
| HP:0100569 | Abnormally ossified vertebrae | Frequent (79-30%) |
| HP:0000023 | Inguinal hernia | Occasional (29-5%) |
| HP:0000069 | Abnormality of the ureter | Occasional (29-5%) |
| HP:0000079 | Abnormality of the urinary system | Occasional (29-5%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0000252 | Microcephaly | Occasional (29-5%) |
| HP:0000294 | Low anterior hairline | Occasional (29-5%) |
| HP:0000316 | Hypertelorism | Occasional (29-5%) |
| HP:0000343 | Long philtrum | Occasional (29-5%) |
| HP:0000482 | Microcornea | Occasional (29-5%) |
| HP:0000643 | Blepharospasm | Occasional (29-5%) |
| HP:0000689 | Dental malocclusion | Occasional (29-5%) |
| HP:0000737 | Irritability | Occasional (29-5%) |
| HP:0000739 | Anxiety | Occasional (29-5%) |
| HP:0000767 | Pectus excavatum | Occasional (29-5%) |
| HP:0000772 | Abnormality of the ribs | Occasional (29-5%) |
| HP:0000787 | Nephrolithiasis | Occasional (29-5%) |
| HP:0000912 | Sprengel anomaly | Occasional (29-5%) |
| HP:0001083 | Ectopia lentis | Occasional (29-5%) |
| HP:0001324 | Muscle weakness | Occasional (29-5%) |
| HP:0001522 | Death in infancy | Occasional (29-5%) |
| HP:0001537 | Umbilical hernia | Occasional (29-5%) |
| HP:0001557 | Prenatal movement abnormality | Occasional (29-5%) |
| HP:0001561 | Polyhydramnios | Occasional (29-5%) |
| HP:0001601 | Laryngomalacia | Occasional (29-5%) |
| HP:0001618 | Dysphonia | Occasional (29-5%) |
| HP:0001762 | Talipes equinovarus | Occasional (29-5%) |
| HP:0002047 | Malignant hyperthermia | Occasional (29-5%) |
| HP:0002092 | Pulmonary arterial hypertension | Occasional (29-5%) |
| HP:0002093 | Respiratory insufficiency | Occasional (29-5%) |
| HP:0002104 | Apnea | Occasional (29-5%) |
| HP:0002167 | Neurological speech impairment | Occasional (29-5%) |
| HP:0002230 | Generalized hirsutism | Occasional (29-5%) |
| HP:0002645 | Wormian bones | Occasional (29-5%) |
| HP:0002750 | Delayed skeletal maturation | Occasional (29-5%) |
| HP:0003042 | Elbow dislocation | Occasional (29-5%) |
| HP:0003179 | Protrusio acetabuli | Occasional (29-5%) |
| HP:0003202 | Skeletal muscle atrophy | Occasional (29-5%) |
| HP:0003326 | Myalgia | Occasional (29-5%) |
| HP:0004325 | Decreased body weight | Occasional (29-5%) |
| HP:0004326 | Cachexia | Occasional (29-5%) |
| HP:0007018 | Attention deficit hyperactivity disorder | Occasional (29-5%) |
| HP:0007740 | Long eyelashes in irregular rows | Occasional (29-5%) |
| HP:0008056 | Aplasia/Hypoplasia affecting the eye | Occasional (29-5%) |
| HP:0008734 | Decreased testicular size | Occasional (29-5%) |
| HP:0008872 | Feeding difficulties in infancy | Occasional (29-5%) |
| HP:0009743 | Distichiasis | Occasional (29-5%) |
| HP:0010978 | Abnormality of immune system physiology | Occasional (29-5%) |
| HP:0011001 | Increased bone mineral density | Occasional (29-5%) |
| HP:0011069 | Increased number of teeth | Occasional (29-5%) |
| HP:0011675 | Arrhythmia | Occasional (29-5%) |
| HP:0100612 | Odontogenic neoplasm | Occasional (29-5%) |
| HP:0100795 | Abnormally straight spine | Occasional (29-5%) |
| HP:0100813 | Testicular torsion | Occasional (29-5%) |
Total: 15
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002486 | Myotonia | 32 |
| HP:0000581 | Blepharophimosis | 6 |
| HP:0002652 | Skeletal dysplasia | 5 |
| HP:0000643 | Blepharospasm | 4 |
| HP:0004322 | Short stature | 4 |
| HP:0000508 | Ptosis | 2 |
| HP:0002803 | Congenital contracture | 2 |
| HP:0003552 | Muscle stiffness | 2 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000768 | Pectus carinatum | 1 |
| HP:0000926 | Platyspondyly | 1 |
| HP:0002691 | Platybasia | 1 |
| HP:0002721 | Immunodeficiency | 1 |
| HP:0003198 | Myopathy | 1 |
| HP:0012366 | Basilar invagination | 1 |