| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (66.3%) |
2596530 |
Apparent Fryns syndrome in a boy with a tandem duplication of 1q24-31.2. Clark RD, Fenner-Gonzales M. Am J Med Genet. 1989;34(3):422-6. |
| Long philtrum Micrognathia | ||
| Brain Chromosome Aberrations Chromosomes, Human, Pair 1 Cleft Palate Head and Neck Neoplasms Hemangioma Homo sapiens Infant, Newborn Male Mosaicism Syndrome Viscera | ||
| 2 (62.9%) |
11146459 |
Variability in the phenotypic expression of fryns syndrome: A report of two sibships. Ramsing M, Gillessen-Kaesbach G, Holzgreve W, Fritz B, Rehder H. Am J Med Genet. 2000;95(5):415-24. |
| Cystic hygroma Postaxial oligodactyly | ||
| Adult Females Fetal Diseases Genes, Recessive Homo sapiens Hydrops Fetalis Infant, Newborn Limb Deformities, Congenital Lymphangioma, Cystic Male Phenotype Pregnancy Respiratory Diaphragm Syndrome Ultrasonography, Prenatal | ||
| 3 (57.8%) |
12962292 |
Cleft-palate lateral synechia syndrome: insight into the phenotypic spectrum of Fryns syndrome? Jaeger A, Kapur R, Whelan M, Leung E, Cunningham M. Birth Defects Res A Clin Mol Teratol. 2003;67(6):460-6. |
| Micrognathia | ||
| Alveolar Process Cleft Palate DNA Diseases in Twins Face Fatal Outcome Females Homo sapiens Infant, Newborn Minisatellite Repeats Mouth Abnormalities Polymerase Chain Reaction Syndrome Tissue Adhesions | ||
| 3 (57.8%) |
2650550 |
Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome. Bamforth JS, Leonard CO, Chodirker BN, Chitayat D, Gritter HL, Evans JA, Keena B, Pantzar T, Friedman JM, Hall JG. Am J Med Genet. 1989;32(1):93-9. |
| Microretrognathia | ||
| Facial Expression Females Genes, Recessive Homo sapiens Infant, Newborn Intellectual Disability Limb Deformities, Congenital Male Syndrome Ultrasonography | ||
| 5 (54.4%) |
21290970 |
Fryns syndrome with atypical findings--with large midline cleft on forehead but normal cranial MRI findings. Demirel G, Oguz SS, Celik IH, Yilmaz Y, Uras N, Erdeve O, Dilmen U. Genet Couns. 2010;21(4):405-9. |
| Macrocephaly Tapered finger Prominent forehead | ||
| Diaphragmatic Hernia Facies Fatal Outcome Forehead Homo sapiens Infant, Newborn Limb Deformities, Congenital Male | ||
| 6 (45.9%) |
8456824 |
Fryns syndrome. Stratton RF, Young RS, Heiman HS, Carter JM. Am J Med Genet. 1993;45(5):562-4. |
| Camptodactyly Unilateral cleft lip | ||
| Face Females Fingers Genes, Lethal Genes, Recessive Homo sapiens Infant, Newborn Lung Respiratory Diaphragm Syndrome Tetralogy of Fallot | ||
| 7 (41.0%) |
24357154 |
Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns-like syndrome? Report on patients from Indian Ocean islands. Alessandri JL, Cuillier F, Malan V, Brayer C, Grondard M, Jacquemot-Dekkak L, Kieffer-Traversier M, Pierre F, Laurain C, Samperiz S, Tiran-Rajaofera I, Ramful D. Am J Med Genet A. 2014;164A(3):648-54. |
| Hernia Cleft lip | ||
| Congenital Hand Deformities Craniofacial Abnormalities Diaphragmatic Hernia Facies Fatal Outcome Females Homo sapiens Indian Ocean Islands Infant Intellectual Disability Limb Deformities, Congenital Male Nails, Malformed Phenotype | ||
| 7 (41.0%) |
16619385 |
Cleft of the secondary palate without cleft lip diagnosed with three-dimensional ultrasound and magnetic resonance imaging in a fetus with Fryns' syndrome. Benacerraf BR, Sadow PM, Barnewolt CE, Estroff JA, Benson C. Ultrasound Obstet Gynecol. 2006;27(5):566-70. |
| Hernia Cleft lip | ||
| Cleft Palate Craniofacial Abnormalities Diaphragmatic Hernia Females Fetal Death Homo sapiens Image Processing, Computer-Assisted Imaging, Three-Dimensional Kidney Magnetic Resonance Imaging Palate, Soft Pregnancy Syndrome Ultrasonography, Prenatal | ||
| 7 (41.0%) |
6859098 |
Fryns syndrome: a new variable multiple congenital anomaly (MCA) syndrome. Lubinsky M, Severn C, Rapoport JM. Am J Med Genet. 1983;14(3):461-6. |
| Hernia Cleft lip | ||
| Cleft Palate Face Females Homo sapiens Infant, Newborn Kidney Limb Deformities, Congenital Male Syndrome | ||
| 10 (39.0%) |
12494439 |
Documentation of anomalies not previously described in Fryns syndrome. Arnold SR, Debich-Spicer D D, Opitz JM, Gilbert-Barness E. Am J Med Genet A. 2003;116A(2):179-82; discussion 183. |
| Microcephaly | ||
| Central Nervous System Differential Diagnosis Face Fatal Outcome Fingers Homo sapiens Infant, Newborn Male Microcephaly Nose Respiratory Diaphragm Syndrome |
Total: 51
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000003 | Multicystic kidney dysplasia | Very frequent (99-80%) |
| HP:0000218 | High palate | Very frequent (99-80%) |
| HP:0000337 | Broad forehead | Very frequent (99-80%) |
| HP:0000343 | Long philtrum | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Very frequent (99-80%) |
| HP:0000431 | Wide nasal bridge | Very frequent (99-80%) |
| HP:0000470 | Short neck | Very frequent (99-80%) |
| HP:0000776 | Congenital diaphragmatic hernia | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001804 | Hypoplastic fingernail | Very frequent (99-80%) |
| HP:0002089 | Pulmonary hypoplasia | Very frequent (99-80%) |
| HP:0006709 | Aplasia/Hypoplasia of the nipples | Very frequent (99-80%) |
| HP:0010804 | Tented upper lip vermilion | Very frequent (99-80%) |
| HP:0011344 | Severe global developmental delay | Very frequent (99-80%) |
| HP:0000028 | Cryptorchidism | Frequent (79-30%) |
| HP:0000154 | Wide mouth | Frequent (79-30%) |
| HP:0000161 | Median cleft lip | Frequent (79-30%) |
| HP:0000175 | Cleft palate | Frequent (79-30%) |
| HP:0000280 | Coarse facial features | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000463 | Anteverted nares | Frequent (79-30%) |
| HP:0000474 | Thickened nuchal skin fold | Frequent (79-30%) |
| HP:0001250 | Seizures | Frequent (79-30%) |
| HP:0001274 | Agenesis of corpus callosum | Frequent (79-30%) |
| HP:0001561 | Polyhydramnios | Frequent (79-30%) |
| HP:0001636 | Tetralogy of Fallot | Frequent (79-30%) |
| HP:0001671 | Abnormal cardiac septum morphology | Frequent (79-30%) |
| HP:0002119 | Ventriculomegaly | Frequent (79-30%) |
| HP:0002120 | Cerebral cortical atrophy | Frequent (79-30%) |
| HP:0004209 | Clinodactyly of the 5th finger | Frequent (79-30%) |
| HP:0006610 | Wide intermamillary distance | Frequent (79-30%) |
| HP:0007957 | Corneal opacity | Frequent (79-30%) |
| HP:0009882 | Short distal phalanx of finger | Frequent (79-30%) |
| HP:0100335 | Non-midline cleft lip | Frequent (79-30%) |
| HP:0000047 | Hypospadias | Occasional (29-5%) |
| HP:0000076 | Vesicoureteral reflux | Occasional (29-5%) |
| HP:0000126 | Hydronephrosis | Occasional (29-5%) |
| HP:0000568 | Microphthalmia | Occasional (29-5%) |
| HP:0000774 | Narrow chest | Occasional (29-5%) |
| HP:0000813 | Bicornuate uterus | Occasional (29-5%) |
| HP:0001305 | Dandy-Walker malformation | Occasional (29-5%) |
| HP:0001539 | Omphalocele | Occasional (29-5%) |
| HP:0001679 | Abnormal aortic morphology | Occasional (29-5%) |
| HP:0002020 | Gastroesophageal reflux | Occasional (29-5%) |
| HP:0002023 | Anal atresia | Occasional (29-5%) |
| HP:0002247 | Duodenal atresia | Occasional (29-5%) |
| HP:0002251 | Aganglionic megacolon | Occasional (29-5%) |
| HP:0002566 | Intestinal malrotation | Occasional (29-5%) |
| HP:0004397 | Ectopic anus | Occasional (29-5%) |
| HP:0012303 | Abnormal aortic arch morphology | Occasional (29-5%) |
Total: 23
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0100790 | Hernia | 21 |
| HP:0002089 | Pulmonary hypoplasia | 6 |
| HP:0000476 | Cystic hygroma | 3 |
| HP:0000568 | Microphthalmia | 3 |
| HP:0000528 | Anophthalmia | 2 |
| HP:0001305 | Dandy-Walker malformation | 2 |
| HP:0001321 | Cerebellar hypoplasia | 2 |
| HP:0000023 | Inguinal hernia | 1 |
| HP:0000085 | Horseshoe kidney | 1 |
| HP:0000252 | Microcephaly | 1 |
| HP:0000618 | Blindness | 1 |
| HP:0000646 | Amblyopia | 1 |
| HP:0001059 | Pterygium | 1 |
| HP:0001561 | Polyhydramnios | 1 |
| HP:0002098 | Respiratory distress | 1 |
| HP:0002139 | Arrhinencephaly | 1 |
| HP:0002557 | Hypoplastic nipples | 1 |
| HP:0002561 | Absent nipple | 1 |
| HP:0003316 | Butterfly vertebrae | 1 |
| HP:0008846 | Severe intrauterine growth retardation | 1 |
| HP:0010442 | Polydactyly | 1 |
| HP:0040326 | Hypoplasia of the olfactory bulb | 1 |
| HP:0410030 | Cleft lip | 1 |