| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 10 (35.4%) |
12901408 |
Second-trimester sonographic diagnosis of diastrophic dysplasia: report of 2 index cases. Wax JR, Carpenter M, Smith W, Grimes C, Pinette MG, Blackstone J, Cartin A. J Ultrasound Med. 2003;22(8):805-8. |
| Clubbing Hitchhiker thumb | ||
| Adult Bone Diseases, Developmental Females Fetal Diseases Homo sapiens Pregnancy Pregnancy Trimester, Second Ultrasonography, Prenatal | ||
| 12 (32.7%) |
23840040 |
A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia. Zechi-Ceide RM, Moura PP, Raskin S, Richieri-Costa A, Guion-Almeida ML. Am J Med Genet A. 2013;161A(8):2088-94. |
| Genu valgum | ||
| SLC26A2 | ||
| c|SUB|T|-26+2|C;RS#:386833492 p|SUB|R|279|W;RS#:104893915 | ||
| Adult Anion Transport Proteins Brazil Child Dwarfism Females Heterozygote Homo sapiens Male Mutation Osteochondrodysplasias Osteogenesis Phenotype Pierre Robin Syndrome Sibling | ||
| 13 (32.4%) |
10466420 |
Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia. Megarbane A, Haddad FA, Haddad-Zebouni S, Achram M, Eich G, Le Merrer M, Superti-Furga A. Clin Genet. 1999;56(1):71-6. |
| Fibular overgrowth Severe platyspondyly | ||
| SLC26A2 | ||
| p|SUB|Q|454|P;RS#:104893921 rs104893921 | ||
| Anion Transport Proteins Biological Transport Carrier Proteins Females Homo sapiens Homozygote Infant Membrane Transport Proteins Osteochondrodysplasias Sulfates, Inorganic | ||
| 14 (32.2%) |
12966518 |
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. Makitie O, Savarirayan R, Bonafe L, Robertson S, Susic M, Superti-Furga A, Cole WG. Am J Med Genet A. 2003;122A(3):187-92. |
| Hip dysplasia Epiphyseal dysplasia | ||
| SLC26A2 | ||
| c|SUB|T|1984|A;RS#:104893924 p|SUB|C|653|S;RS#:104893924 p|SUB|R|279|W;RS#:104893915 rs104893924 rs386833497 | ||
| Amino Acid Substitution Anion Transport Proteins Carrier Proteins Child Child, Preschool DNA DNA Mutational Analysis Females Genes, Recessive Homo sapiens Homozygote Male Membrane Transport Proteins Mutation Osteochondrodysplasias Patella | ||
| 15 (31.4%) |
18513679 |
Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. Hermanns P, Unger S, Rossi A, Perez-Aytes A, Cortina H, Bonafe L, Boccone L, Setzu V, Dutoit M, Sangiorgi L, Pecora F, Reicherter K, Nishimura G, Spranger J, Zabel B, Superti-Furga A. Am J Hum Genet. 2008;82(6):1368-74. |
| Hip dysplasia Kyphoscoliosis | ||
| CHST3 | ||
| rs121908616 rs121908617 rs121908618 rs121908619 rs267606734 | ||
| Adult Bone Diseases, Developmental Child Child, Preschool Chondroitin Sulfate Proteoglycans Dysostoses Females Genes, Recessive Homo sapiens Infant, Newborn Male Mutation Osteochondrodysplasias Phenotype Syndrome | ||
| 16 (30.6%) |
6107849 |
[Diastrophic dwarfism (author's transl)]. Balcar-Boron A, Boron Z, Czerwionka-Szaflarska M, Gruchala G. Monatsschr Kinderheilkd. 1980;128(9):618-9. |
| Talipes equinovarus Kyphoscoliosis | ||
| Abnormalities, Drug-Induced Anti-Bacterial Agents Bone Diseases, Developmental Dwarfism Females Homo sapiens Infant Male Maternal-Fetal Exchange Pregnancy Pregnancy Complications, Infectious | ||
| 17 (29.2%) |
10465113 |
Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. Superti-Furga A, Neumann L, Riebel T, Eich G, Steinmann B, Spranger J, Kunze J. J Med Genet. 1999;36(8):621-4. |
| Hip dysplasia | ||
| COL9A2 COMP SLC26A2 | ||
| p|SUB|R|279|W;RS#:104893915 rs104893915 | ||
| Adult Anion Transport Proteins Carrier Proteins DNA Mutational Analysis Genes, Recessive Genetic Counseling Hand Homo sapiens Male Membrane Transport Proteins Osteochondrodysplasias Pelvis | ||
| 18 (28.9%) |
8723083 |
Diastrophic dysplasia: extreme variability within a sibship. Hall BD. Am J Med Genet. 1996;63(1):28-33. |
| Abnormality of the hand | ||
| rs104893921 | ||
| Adult Bone and Bones Diseases in Twins Females Genes, Recessive Homo sapiens Infant Infant, Newborn Male Nuclear Family Osteochondrodysplasias | ||
| 19 (23.3%) |
26692703 (4660502) |
Cervical spine surgery in patients with diastrophic dysplasia: Case report with long-term follow-up. Jasiewicz B, Potaczek T, Duda S, Tsiorowski M. J Craniovertebr Junction Spine. 2015;6(4):216-8. |
| Tetraplegia Cervical kyphosis | ||
| SLC26A2 | ||
| 19 (23.3%) |
21067083 |
Total knee arthroplasty in a patient with diastrophic dwarfism. Crowley RL, Haas RE. AANA J. 2010;78(5):366-8. |
| Scoliosis | ||
| Dwarfism Females General Anesthesia Homo sapiens Intubation, Intratracheal Middle Aged Pharyngitis |
Total: 43
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000256 | Macrocephaly | Very frequent (99-80%) |
| HP:0000772 | Abnormality of the ribs | Very frequent (99-80%) |
| HP:0000889 | Abnormality of the clavicle | Very frequent (99-80%) |
| HP:0000944 | Abnormality of the metaphysis | Very frequent (99-80%) |
| HP:0001163 | Abnormality of the metacarpal bones | Very frequent (99-80%) |
| HP:0001511 | Intrauterine growth retardation | Very frequent (99-80%) |
| HP:0002650 | Scoliosis | Very frequent (99-80%) |
| HP:0002983 | Micromelia | Very frequent (99-80%) |
| HP:0003312 | Abnormal form of the vertebral bodies | Very frequent (99-80%) |
| HP:0005280 | Depressed nasal bridge | 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:0008434 | Hypoplastic cervical vertebrae | Very frequent (99-80%) |
| HP:0008921 | Neonatal short-limb short stature | Very frequent (99-80%) |
| HP:0009381 | Short finger | Very frequent (99-80%) |
| HP:0009623 | Proximal placement of thumb | Very frequent (99-80%) |
| HP:0009748 | Large earlobe | Very frequent (99-80%) |
| HP:0009773 | Symphalangism affecting the phalanges of the hand | Very frequent (99-80%) |
| HP:0011001 | Increased bone mineral density | Very frequent (99-80%) |
| HP:0011800 | Midface retrusion | Very frequent (99-80%) |
| HP:0000175 | Cleft palate | Frequent (79-30%) |
| HP:0000293 | Full cheeks | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Frequent (79-30%) |
| HP:0000396 | Overfolded helix | Frequent (79-30%) |
| HP:0000592 | Blue sclerae | Frequent (79-30%) |
| HP:0001252 | Muscular hypotonia | Frequent (79-30%) |
| HP:0001373 | Joint dislocation | Frequent (79-30%) |
| HP:0001385 | Hip dysplasia | Frequent (79-30%) |
| HP:0001387 | Joint stiffness | Frequent (79-30%) |
| HP:0002093 | Respiratory insufficiency | Frequent (79-30%) |
| HP:0002205 | Recurrent respiratory infections | Frequent (79-30%) |
| HP:0002808 | Kyphosis | Frequent (79-30%) |
| HP:0009465 | Ulnar deviation of finger | Frequent (79-30%) |
| HP:0100490 | Camptodactyly of finger | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000347 | Micrognathia | Occasional (29-5%) |
| HP:0000365 | Hearing impairment | Occasional (29-5%) |
| HP:0000974 | Hyperextensible skin | Occasional (29-5%) |
| HP:0002514 | Cerebral calcification | Occasional (29-5%) |
| HP:0003042 | Elbow dislocation | Occasional (29-5%) |
| HP:0005692 | Joint hyperflexibility | Occasional (29-5%) |
| HP:0100761 | Visceral angiomatosis | Occasional (29-5%) |
Total: 18
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002650 | Scoliosis | 3 |
| HP:0002652 | Skeletal dysplasia | 3 |
| HP:0002947 | Cervical kyphosis | 3 |
| HP:0000926 | Platyspondyly | 2 |
| HP:0001234 | Hitchhiker thumb | 2 |
| HP:0001373 | Joint dislocation | 2 |
| HP:0000268 | Dolichocephaly | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0001155 | Abnormality of the hand | 1 |
| HP:0001217 | Clubbing | 1 |
| HP:0001298 | Encephalopathy | 1 |
| HP:0001513 | Obesity | 1 |
| HP:0001883 | Talipes | 1 |
| HP:0002445 | Tetraplegia | 1 |
| HP:0002808 | Kyphosis | 1 |
| HP:0003099 | Fibular overgrowth | 1 |
| HP:0004565 | Severe platyspondyly | 1 |
| HP:0009487 | Ulnar deviation of the hand | 1 |