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Growth retardation, alopecia, pseudoanodontia, and optic atrophy
GAPO syndrome

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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
Short stature skeletal 100 % 18470892 2013-07-11
Alopecia integumentary 100 % 18470892 2013-07-11
Pseudoanodontia digestive 100 % 18470892 2013-07-11
Bossed forehead skeletal 100 % 18470892 2013-07-11
Depressed nasal bridge skeletal 100 % 18470892 2013-07-11
Skin redundancy integumentary 100 % 18470892 2013-07-11
Wide anterior fontanel skeletal 93 % 18470892 2013-07-11
Protruding lips integumentary 89 % 18470892 2013-07-11
Protruding auricles integumentary 89 % 18470892 2013-07-11
Micrognathia skeletal 85 % 18470892 2013-07-11
Hypermobile joints skeletal 77 % 18470892 2013-07-11
Prominent scalp veins circulatory 63 % 18470892 2013-07-11
Hernia integumentary 55 % 18470892 2013-07-11
Optic atrophy nervous 28 % 18470892 2013-07-11
Glaucoma nervous 13 % 18470892 2013-07-11
Nystagmus nervous 9 % 18470892 2013-07-11

List of references:

GAPO syndrome: three new Brazilian cases, additional osseous manifestations, and review of the literature.
Eny Maria Goloni-Bertollo, Mariangela Torreglosa Ruiz, Cristina B Vendrame Goloni, Marcos Pontes Muniz, Nelson Iguimar Valério, Erika Cristina Pavarino-Bertelli,

The GAPO syndrome is an extremely rare autosomal recessive disease that presents as main characteristics evident growth retardation, alopecia, pseudoanodontia, progressive optic atrophy and a typical face. Until now, only 30 patients have been reported in the medical literature (nine of them from Brazil, including the three cases described in the present article). This study describes three siblings with GAPO syndrome, two female and one male, the children of consanguineous parents (first-degree cousins, inbreeding F = 1/16), who are older than the previously described patients, presenting the characteristic phenotype besides serious bone alterations in the lower limbs, which had not yet been observed.

American journal of medical genetics. Part A - Jun 2008

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