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

17 entries on 1 page. Showing entries 1 - 17.
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0000187801 Jeune syndrome - see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00248833
0000187802 Jeune syndrome JBTS-33 see paper; ..., narrow thorax, pelvic bone malformation, retinal degeneration due to cone-rod dystrophy in childhood, no impairment renal function Familial, autosomal recessive - - - - Johan den Dunnen 00248834
0000187803 Jeune syndrome - see paper; ..., cone-rod dystrophy, severe scoliosis, hip dysplasia Familial, autosomal recessive - - - - Johan den Dunnen 00248835
0000227561 short rib polydactyly syndrome SRTD18 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 Familial, autosomal recessive <0d - - - Johan den Dunnen 00300260
0000227562 short rib polydactyly syndrome SRTD18 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 Familial, autosomal recessive <0d - - - Johan den Dunnen 00300261
0000227563 short rib polydactyly syndrome SRTD7 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 Familial, autosomal recessive <0d - - - Johan den Dunnen 00300262
0000227564 short rib polydactyly syndrome SRTD7 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 Familial, autosomal recessive <0d - - - Johan den Dunnen 00300263
0000245782 SRPS type III SRTD8 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 Familial, autosomal recessive 00y00m01d - - - Johan den Dunnen 00327500
0000245783 Jeune syndrome SRTD8 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 Familial, autosomal recessive - - - - Johan den Dunnen 00327502
0000246669 short-rib polydactyly syndromes (SRPS) short-rib polydactyly syndromes (SRPS) 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) Familial, autosomal recessive - - - Rectal atresia (HP_0025023), polydactyly of the hand (HP:0001161) narrow thorax (HP:0000774), dolichocephaly (HP:0000268), Reduced renal corticomedullary differentiation (HP:0005565), short ribs (HP:0000773), speech delay (HP:0000750) Jens Doets 00328443
0000254686 Jeune syndrome - - Unknown - - - - Cynthia Silveira 00359445
0000254690 Jeune syndrome - - Unknown - - - - Cynthia Silveira 00359449
0000254691 Jeune syndrome - - Unknown - - - - Cynthia Silveira 00359450
0000254692 Jeune syndrome - - Unknown - - - - Cynthia Silveira 00359451
0000298408 Jeune syndrome/Ellis-van Creveld syndrome Jeune syndrome/Ellis-van Creveld syndrome 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 Familial, autosomal recessive 00y04m 00y04m - - Alessandro De Luca 00405911
0000302078 short rib-polydactyly syndrome SRTD3 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00409964
0000349968 - SRTD9 - Familial, autosomal recessive - - - - Johan den Dunnen 00462492
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