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Fraser syndrome

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We were unfortunately unable to download the information for this disease from OMIM.

Prevalence of clinical parameters (%)

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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
Syndactyly integumentary 95 % 18000968 2014-04-23
Cryptophthalmos integumentary 85 % 18000968 2014-04-23
Renal agenesis urinary 78 % 18000968 2014-04-23
Ear malformation integumentary 75 % 18000968 2014-04-23
Ambiguous genitalia reproductive 66 % 18000968 2014-04-23
Nose malformation integumentary 53 % 18000968 2014-04-23
Larynx atresia respiratory 49 % 18000968 2014-04-23
Anal atresia integumentary 32 % 18000968 2014-04-23
Low-set umbilicus integumentary 29 % 18000968 2014-04-23
Skull ossification defect skeletal 12 % 18000968 2014-04-23
Ureter agenesis urinary 10 % 18000968 2014-04-23
Cardiac structural defects circulatory 10 % 18000968 2014-04-23
Cleft lip or palate integumentary 9 % 18000968 2014-04-23
Mental retardation nervous 7 % 18000968 2014-04-23
Meningo-encephalocele nervous 5 % 18000968 2014-04-23

List of references:

Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria.
Mieke M van Haelst, Peter J Scambler, , Raoul C M Hennekam,

Fraser syndrome is an autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, syndactyly, and urogenital defects. We studied the clinical features in 59 affected individuals from 40 families (25 consanguineous), and compared our findings to data from previous reviews. We found a higher frequency of abnormalities of the skull, larynx, umbilicus, urinary tract, and anus in our series of patients, and mental retardation and cleft lip with or without cleft palate were observed less frequently than previously reported. Clinical features in probands and sibs were remarkably similar. As can be expected prenatally diagnosed patients had more manifestations that gave rise to a pathological amount of amniotic fluid. Otherwise patients diagnosed before and after birth had similar frequencies of symptoms. Based on the present results we suggest an adaptation of diagnostic criteria for FS, including adding airway tract and urinary tract anomalies as major criteria. The specificity of the proposed diagnostic criteria was evaluated using the London Medical Database as a search tool.

American journal of medical genetics. Part A - Dec 2007

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