| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (61.4%) |
20542149 |
Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker type. Rieubland C, Jacquemont S, Mittaz L, Osterheld MC, Vial Y, Superti-Furga A, Unger S, Bonafe L. Eur J Med Genet. 2010;53(5):294-8. |
| Short ribs Encephalocele Severe limb shortening | ||
| HSPG2 | ||
| Dwarfism Females Heparan Sulfate Proteoglycans Homo sapiens Osteochondrodysplasias Point Mutation Pregnancy | ||
| 2 (45.7%) |
23836246 |
Dyssegmental dysplasia, Silverman-Handmaker type: prenatal ultrasound findings and molecular analysis. Ladhani NN, Chitayat D, Nezarati MM, Laureane MC, Keating S, Silver RJ, Unger S, Velsher L, Sirkin W, Toi A, Glanc P. Prenat Diagn. 2013;33(11):1039-43. |
| Anisospondyly Severe limb shortening | ||
| HSPG2 | ||
| c|DEL|1356-27_1507+59| c|SUB|C|5788|T c|SUB|G|646|T | ||
| Abortion, Eugenic Adult Dwarfism Females Homo sapiens Molecular Diagnostic Techniques Pregnancy Retrospective Studies Stillbirth Ultrasonography, Prenatal Young Adult | ||
| 3 (21.2%) |
11941538 |
Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. Arikawa-Hirasawa E, Le AH, Nishino I, Nonaka I, Ho NC, Francomano CA, Govindraj P, Hassell JR, Devaney JM, Spranger J, Stevenson RE, Iannaccone S, Dalakas MC, Yamada Y. Am J Hum Genet. 2002;70(5):1368-75. |
| Myotonia Skeletal dysplasia | ||
| HSPG2 | ||
| Base Sequence Child Child, Preschool DNA Mutational Analysis Exons Genotype Heparan Sulfate Proteoglycans Homo sapiens Infant Male Mutation Myotonic Disorders Osteochondrodysplasias Phenotype Structure-Activity Relationship | ||
| 4 (4.0%) |
18388778 |
Dyssegmental dysplasia in a South African neonate. Winship WS, Beighton P. Clin Dysmorphol. 2008;17(2):95-8. |
| Pneumonia | ||
| Bone Diseases, Developmental Chest Differential Diagnosis Facies Fatal Outcome Females Heparan Sulfate Proteoglycans Hirsutism Homo sapiens Infant, Newborn Pelvis Radiography, Thoracic South Africa | ||
| 4 (4.0%) |
9450878 |
Dyssegmental dysplasia Silverman-Handmaker type in a consanguineous Druze Lebanese family: long term survival and documentation of the natural history. Prabhu VG, Kozma C, Leftridge CA, Helmbrecht GD, France ML. Am J Med Genet. 1998;75(2):164-70. |
| Recurrent fever | ||
| Adult Dwarfism Homo sapiens Infant Infant, Newborn Lebanon Male Osteochondrodysplasias Syndrome |
Total: 16
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000592 | Blue sclerae | Very frequent (99-80%) |
| HP:0000774 | Narrow chest | Very frequent (99-80%) |
| HP:0000944 | Abnormality of the metaphysis | Very frequent (99-80%) |
| HP:0001387 | Joint stiffness | Very frequent (99-80%) |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | Very frequent (99-80%) |
| HP:0002879 | Anisospondyly | Very frequent (99-80%) |
| HP:0002983 | Micromelia | Very frequent (99-80%) |
| HP:0006487 | Bowing of the long bones | Very frequent (99-80%) |
| HP:0008873 | Disproportionate short-limb short stature | Very frequent (99-80%) |
| HP:0000023 | Inguinal hernia | Frequent (79-30%) |
| HP:0000175 | Cleft palate | Frequent (79-30%) |
| HP:0000457 | Depressed nasal ridge | Frequent (79-30%) |
| HP:0001537 | Umbilical hernia | Frequent (79-30%) |
| HP:0001631 | Atrial septal defect | Frequent (79-30%) |
| HP:0002093 | Respiratory insufficiency | Frequent (79-30%) |
Total: 2
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002879 | Anisospondyly | 1 |
| HP:0200083 | Severe limb shortening | 1 |