Disease #05635 (SRTD (dysplasia, short-rib thoracic, with/without polydactyly (SRTD) (Jeune syndrome)))

Official abbreviation SRTD
Name dysplasia, short-rib thoracic, with/without polydactyly (SRTD) (Jeune syndrome)
OMIM ID -
Inheritance -
Individuals reported having this disease 22
Phenotype entries for this disease 17
Associated with 5 genes DYNC2H1, IFT43, TTC21B, WDR35, WDR60
Associated tissues -
Disease features -
Remarks -
Date created 2019-07-28 13:54:33 +02:00 (CEST)
Date last edited N/A


Individuals

22 entries on 1 page. Showing entries 1 - 22.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00107874 JATD3 PubMed: Schmidts 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Germany - - - - - SRTD - IFT140 IFT140 1 1 Hannah Mitchison
00107875 JATD1 PubMed: Schmidts 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Serbia - - - - - SRTD - IFT140 IFT140 2 1 Hannah Mitchison
00107876 JATD2 PubMed: Schmidts 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Serbia - - - - - SRTD - IFT140 IFT140 2 1 Hannah Mitchison
00107877 JATD5 PubMed: Schmidts 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Lithuania - - - - - SRTD - IFT140 IFT140 1 1 Hannah Mitchison
00248833 FamUCL-111P1/P2 PubMed: Wheway 2015 2-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives F;M - - white, Europe (north) - - - - SRTD see paper; ... C21orf2 C21orf2 2 2 Johan den Dunnen
00248834 FamUCL78P1 PubMed: Wheway 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - United States white, Europe (north) - - - - SRTD see paper; ..., narrow thorax, pelvic bone malformation, retinal degeneration due to cone-rod dystrophy in childhood, no impairment renal function C21orf2 C21orf2 2 1 Johan den Dunnen
00248835 FamGC4693Pat1/2/3/4/5 PubMed: Wheway 2015 2-generation family, 5 affected (2F, 3M), unaffected heterozygous carrier parents/relatives F;M - - - 00y00m15d - - - SRTD see paper; ..., cone-rod dystrophy, severe scoliosis, hip dysplasia C21orf2 C21orf2 1 1 Johan den Dunnen
00300260 R06-303A PubMed: Duran 2017 3-generation family, affected sister/fetus, unaffected heterozygous carrier parents/relatives F - United States - - - - - SRTD 30w-delivery; dolichocephaly; brain with abnormal folding of the left hippocampus, neuroglial heterotopias in the roof of the temporal horn, and mildly dilated ventricles; hypertelorism, bilateral epicanthal folds; thin upper lip, attached to maxilla by mucosal fold, micrognathia; small chest, abnormally bent ribs, mild platyspondyly; liver with ductal abnormalities, pancreas with stellate area of fibrosis in the tail; abnormal maturation of the kidneys with a poorly formed nephrogenic zone, thin cortex and medulla, and fibrosis; micromelia, reverse campomelia of humeri, curved radii, and ulnae; abnormal ilia; micromelia, thin fibulae; postaxial polydactyly with brachydactyly, bilateral simian creases, bilateral partial syndactyly of the second and third toes IFT43 IFT43 1 2 Johan den Dunnen
00300261 R03-121 PubMed: Duran 2017 4-generation family, affected sister/fetus, unaffected heterozygous carrier parents/relatives F - United States European - - - - SRTD 18w-delivery; poor mineralization of the calvarium; mild hydrocephalus; no reported abnormalities; no reported abnormalities; narrow and barrel shaped chest, short, bent and decreased number of ribs (11), vertebrae flattened and abnormally wedged with round anterior ends; malrotation of the intestines; polycystic kidneys; micromelia, decreased mineralization with curved radii and ulnae; abnormal ilia with decreased height, narrow sciatic notch, hypoplastic ischium; micromelia, angulated femur, hypoplastic tibae and fibulae; preaxial polydactyly, brachydactyly and aphalangia in hands IFT43 IFT43 1 2 Johan den Dunnen
00300262 R03-342 PubMed: Duran 2017 fetus - - United States European - - - - SRTD 22w-delivery; scalp edema, low set ears; hypertelorism; thin upper lip and micrognathia; narrow and barrel shaped chest, short and bent ribs, handlebar clavicles; micromelia with bowing of the radii and ulnae; abnormal ilia with abnormal absent sciatic notch and unformed acetabular roof; micromelia; postaxial polydactyly in the hands and feet, and aphalangia in the hands WDR35 WDR35 2 1 Johan den Dunnen
00300263 R10-483 PubMed: Duran 2017 - - - United States - - - - - SRTD 23w-delivery; scalp edema; very short, variably bent ribs, handlebar clavicles; micromelia with bowing of the radii and ulnae; flat acetabular roof, narrow sacrosciatic notch; micromelia, bending of the tibae and fibulae; poor mineralization of the hands and feet, no polydactyly WDR35 WDR35 2 1 Johan den Dunnen
00327500 SKDP42 PubMed: McInerney-Leo 2013 2-generation family, 2 affected (child and fetus), unaffected heterozygous carrier parents M no Australia - 00y00m01d - - - SRTD see paper; ..., 2h-deceased, 16w-ultrasound short long bones; 31w-ultrasound polyhydramnios, severe shortening of long bones with bowed femurs, macrocephaly, short ribs, and ambiguous genitalia WDR60 WDR60 2 2 Johan den Dunnen
00327502 JATD76 PubMed: McInerney-Leo 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Spain - - - - - SRTD see paper; ...; 21w-ultrasound short femora; birth-41w, narrow chest, preaxial polydactyly right hand (extra digit removed by surgery), small clinically insignificant ventricular septal defect; 1y-failure to thrive WDR60 LAMA5, TTN, WDR60 5 1 Johan den Dunnen
00328443 FAM1Pat:3 PubMed: Ashraf 2020, Journal: Ashraf 2020 2-generation family, one affected male, unaffected heterozygous carrier parents M no Romania - >11y - - - SRTD Rectal atresia (HP_0025023), Abnormal facial shape (HP:0001999), polydactyly of the hand (HP:0001161), deep grooves on the plantar surfaces of his feet, Echogenic kidneys, narrow thorax (HP:0000774), dolichocephaly (HP:0000268), Reduced renal corticomedullary differentiation (HP:0005565), micropenis (HP:0000054), dextrocardia (HP:0001651), situs inversus (HP:0001696), short ribs (HP:0000773), speech delay (HP:0000750), mild intellectual disability (HP:0001256) IFT81 IFT81 3 1 Jens Doets
00359445 - - - - - (Brazil) - - - - - SRTD - - WDR19 1 1 Cynthia Silveira
00359449 - - - - - (Brazil) - - - - - SRTD - - WDR19 1 1 Cynthia Silveira
00359450 - - - - - (Brazil) - - - - - SRTD - - DYNC2H1 1 1 Cynthia Silveira
00359451 - - - - - (Brazil) - - - - - SRTD - - DYNC2H1 1 1 Cynthia Silveira
00359495 - - - - - Brazil - - - - - SRTD - DYNC2H1 DYNC2H1 1 1 Karina Silveira
00405911 - - - M no Italy - - - - - SRTD Dysplastic nails, short stature, narrow thorax, limb shortening, bilateral hads and feet postaxial polydactyly, brachydactyly, hand-feet syndactyly, hypertrabeculature of left ventricle apex, renal anaomalies DYNC2H1 DYNC2H1 2 1 Alessandro De Luca
00409964 fetus PubMed: Mei 2015 2-generation family, affected fetus, unaffected heterozygous carrier parents - - China - - - - - SRTD see paper; ... DYNC2H1 DYNC2H1 2 1 Johan den Dunnen
00462492 JATD4 PubMed: Schmidts 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Serbia - - - - - SRTD - IFT140 IFT140 2 1 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.