| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (66.3%) |
2624385 |
[Femoral hypoplasia--unusual facies syndrome]. Trabelsi M, Monastiri K, Hammami A, Touzi C, Ben Hariz M, Gharbi HA, Bennaceur B. Ann Pediatr (Paris). 1989;36(10):693-6. |
| Long philtrum Micrognathia | ||
| Child, Preschool Face Females Femur Homo sapiens Male Syndrome | ||
| 2 (50.2%) |
22382510 |
Caudal dysplasia, femoral hypoplasia-unusual facies syndrome and absent radius: a new association in infant of diabetic mother? Gupta P, Khatri PC, Agarwal R, Gupta P. Indian J Pediatr. 2012;79(11):1517-9. |
| Absent radius | ||
| Diabetes Mellitus, Non-Insulin-Dependent Females Femur Homo sapiens Infant, Newborn Male Pierre Robin Syndrome Pregnancy Pregnancy in Diabetics Sacrococcygeal Region Young Adult | ||
| 3 (30.6%) |
8465843 |
Axial mesodermal dysplasia spectrum. Stewart FJ, Nevin NC, Brown S. Am J Med Genet. 1993;45(4):426-9. |
| Bilateral talipes equinovarus Lumbar hemivertebrae | ||
| Adult Anus, Imperforate Congenital Dysplasia Of The Hip Females Homo sapiens Infant, Newborn Kidney Male Mesoderm Radiography, Thoracic | ||
| 4 (29.2%) |
6685352 |
Prune perineum syndrome: report of a second case. Williams DA, Weiss T, Wade E, Dignan P. Teratology. 1983;28(1):145-8. |
| Anal atresia Acetabular dysplasia | ||
| Adult Females Homo sapiens Infant, Newborn Pregnancy Pregnancy Complications Smoking Syndrome | ||
| 5 (22.8%) |
8775416 |
Severe axial mesodermal dysplasia spectrum in an infant of a diabetic mother. Depraetere M, Dehauwere R, Marien P, Fryns JP. Genet Couns. 1995;6(4):303-7. |
| Neurogenic bladder Bilateral talipes equinovarus | ||
| Adult Bone Diseases, Developmental Females Femur Homo sapiens Infant Infant, Newborn Mesoderm Pelvic Bones Pregnancy Pregnancy in Diabetics | ||
| 6 (17.5%) |
7735512 |
Extreme hypotrophy of the lower body pole, extensive hypoplasia of the spinal column and multiple anomalies of abdominal organs: a maximal variant of the caudal regression sequence? Rossi R, Holzgreve W, Rehder H. Clin Dysmorphol. 1995;4(1):87-92. |
| Anal atresia Hernia | ||
| Anus, Imperforate Diaphragmatic Hernia Homo sapiens Infant, Newborn Male Male Genital Organs Spinal Cord | ||
| 7 (4.0%) |
30362177 |
Caudal regression syndrome in a fetus of a glucokinase-maturity-onset diabetes of the young pregnancy. Taylor RAM, Mackie A, Mogra R, Pinner J, Rajendran S, Ross GP. Diabet Med. 2019;36(2):252-255. |
| Diabetes mellitus | ||
| GCK | ||
| p|SUB|V|199|M | ||
| Adult Diabetes Mellitus, Non-Insulin-Dependent Females Fetus Glucokinase Heterozygote Homo sapiens Hyperglycemia Missense Mutation Pregnancy Pregnancy in Diabetics | ||
| 7 (4.0%) |
26455704 |
[Caudal regression sequence: clinical-radiological case]. Zepeda T J, Garcia M M, Morales S J, Pantoja H MA, Espinoza G A. Rev Chil Pediatr. 2015;86(6):430-5. |
| Maternal diabetes | ||
| Adult Females Gestational Diabetes Homo sapiens Infant, Newborn Male Pregnancy Sacrococcygeal Region Ultrasonography, Prenatal | ||
| 7 (4.0%) |
23737573 |
Prenatal diagnosis of caudal dysplasia sequence associated with undiagnosed type I diabetes. Palacios-Marques A, Oliver C, Martin-Bayon T, Martinez-Escoriza JC. BMJ Case Rep. 2013;2013:. |
| Maternal diabetes | ||
| Adult Diabetes Mellitus, Insulin-Dependent Differential Diagnosis Females Homo sapiens Male Pregnancy Pregnancy Outcome Pregnancy in Diabetics Sacrococcygeal Region Ultrasonography, Prenatal Young Adult | ||
| 7 (4.0%) |
22391434 |
Association of DiGeorge anomaly and caudal dysplasia sequence in a neonate born to a diabetic mother. Dentici ML, Placidi S, Francalanci P, Capolino R, Rinelli G, Marino B, Digilio MC, Dallapiccola B. Cardiol Young. 2013;23(1):14-7. |
| Maternal diabetes | ||
| DiGeorge Syndrome Diabetes Mellitus, Insulin-Dependent Females Homo sapiens Infant, Newborn Kidney Pregnancy Pregnancy in Diabetics Sacrococcygeal Region Urogenital Abnormalities |
Total: 29
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0002607 | Bowel incontinence | Very frequent (99-80%) |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | Very frequent (99-80%) |
| HP:0003199 | Decreased muscle mass | Very frequent (99-80%) |
| HP:0005640 | Abnormal vertebral segmentation and fusion | Very frequent (99-80%) |
| HP:0008479 | Hypoplastic vertebral bodies | Very frequent (99-80%) |
| HP:0008517 | Aplasia/Hypoplasia of the sacrum | Very frequent (99-80%) |
| HP:0009800 | Maternal diabetes | Very frequent (99-80%) |
| HP:0011867 | Abnormality of the wing of the ilium | Very frequent (99-80%) |
| HP:0100710 | Impulsivity | Very frequent (99-80%) |
| HP:0000069 | Abnormality of the ureter | Frequent (79-30%) |
| HP:0000073 | Ureteral duplication | Frequent (79-30%) |
| HP:0000076 | Vesicoureteral reflux | Frequent (79-30%) |
| HP:0000086 | Ectopic kidney | Frequent (79-30%) |
| HP:0000104 | Renal agenesis | Frequent (79-30%) |
| HP:0001315 | Reduced tendon reflexes | Frequent (79-30%) |
| HP:0001387 | Joint stiffness | Frequent (79-30%) |
| HP:0001762 | Talipes equinovarus | Frequent (79-30%) |
| HP:0002023 | Anal atresia | Frequent (79-30%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000062 | Ambiguous genitalia | Occasional (29-5%) |
| HP:0000083 | Renal insufficiency | Occasional (29-5%) |
| HP:0000202 | Oral cleft | Occasional (29-5%) |
| HP:0000822 | Hypertension | Occasional (29-5%) |
| HP:0000921 | Missing ribs | Occasional (29-5%) |
| HP:0002089 | Pulmonary hypoplasia | Occasional (29-5%) |
| HP:0002139 | Arrhinencephaly | Occasional (29-5%) |
| HP:0002308 | Arnold-Chiari malformation | Occasional (29-5%) |
Total: 7
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0009800 | Maternal diabetes | 3 |
| HP:0000518 | Cataract | 1 |
| HP:0000819 | Diabetes mellitus | 1 |
| HP:0010458 | Female pseudohermaphroditism | 1 |
| HP:0011604 | Aortopulmonary window | 1 |
| HP:0011613 | Interrupted aortic arch type B | 1 |
| HP:0025407 | Rectourethral fistula | 1 |