Meier-Gorlin syndrome
MGORS

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Prevalence (%) of clinical parameters based on data from 1 references describing 35 individuals







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 Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Hypogonadism reproductive 100 % 22333897 2017-01-19
Microtia skeletal 97 % 22333897 2017-01-19
Intrauterine growth retardation multi 97 % 22333897 2017-01-19
Patellar hypoplasia skeletal 94 % 22333897 2017-01-19
Short stature skeletal 89 % 22333897 2017-01-19
Micrognathia skeletal 86 % 22333897 2017-01-19
Feeding difficulties digestive 81 % 22333897 2017-01-19
Full lips integumentary 70 % 22333897 2017-01-19
Ear malformation skeletal 66 % 22333897 2017-01-19
Cryptorchidism reproductive 64 % 22333897 2017-01-19
Delayed bone age skeletal 64 % 22333897 2017-01-19
Small mouth integumentary 62 % 22333897 2017-01-19
High nasal bridge skeletal 59 % 22333897 2017-01-19
Low set ears skeletal 57 % 22333897 2017-01-19
Downward sloping palpebral apertures skeletal 53 % 22333897 2017-01-19
Beaked nose skeletal 50 % 22333897 2017-01-19
Narrow nose skeletal 50 % 22333897 2017-01-19
Microcephaly skeletal 45 % 22333897 2017-01-19
Emphysema respiratory 43 % 22333897 2017-01-19
Laryngotracheoesophageal anomalies respiratory 42 % 22333897 2017-01-19
Gastroesophageal reflux digestive 42 % 22333897 2017-01-19
Posteriorly rotated ears skeletal 41 % 22333897 2017-01-19
Recurrent infections lymphatic 40 % 22333897 2017-01-19
Failure to thrive multi 35 % 22333897 2017-01-19
Tracheomalacia respiratory 33 % 22333897 2017-01-19
Genu recurvatum skeletal 32 % 22333897 2017-01-19
Laryngomalacia respiratory 25 % 22333897 2017-01-19
Disproportionate stature skeletal 24 % 22333897 2017-01-19
Hypoplastic labia minora reproductive 24 % 22333897 2017-01-19
Contracture skeletal 19 % 22333897 2017-01-19
Bronchomalacia respiratory 17 % 22333897 2017-01-19
Developmental delay nervous 16 % 22333897 2017-01-19
Micropenis reproductive 14 % 22333897 2017-01-19
Clitoromegaly reproductive 10 % 22333897 2017-01-19
Joint dislocation skeletal 10 % 22333897 2017-01-19
Hypospadia reproductive 7 % 22333897 2017-01-19
Renal agenesis urinary 6 % 22333897 2017-01-19
Mental retardation nervous 3 % 22333897 2017-01-19
Kidney stone urinary 3 % 22333897 2017-01-19



List of references:


Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.
Sonja A de Munnik, Louise S Bicknell, Salim Aftimos, Jumana Y Al-Aama, Yolande van Bever, Michael B Bober, Jill Clayton-Smith, Alaa Y Edrees, Murray Feingold, Alan Fryer, Johanna M van Hagen, Raoul C Hennekam, Maaike C E Jansweijer, Diana Johnson, Sarina G Kant, John M Opitz, A Radha Ramadevi, Willie Reardon, Alison Ross, Pierre Sarda, Constance T R M Schrander-Stumpel, Jeroen Schoots, I Karen Temple, Paulien A Terhal, Annick Toutain, Carol A Wise, Michael Wright, David L Skidmore, Mark E Samuels, Lies H Hoefsloot, Nine V A M Knoers, Han G Brunner, Andrew P Jackson, Ernie M H F Bongers,



European journal of human genetics : EJHG - Jun 2012