Carpenter-Waziri syndrome

Definicija

Carpenter-Waziri syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies; see this term).

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Pun naziv

Carpenter-Waziri syndrome

Kratki naziv

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Sinonimi

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Orpha broj

Kategorija

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Naziv na stranom jeziku

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Prevalenca

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Nasleđivanje

X-linked recessive

Period početka bolesti

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ICD 10

OMIM

UMLS

GARD

MEDDRA

Tekstualni opis
In the affected males the syndrome was characterised by a coarse facial appearance (prominent lips, bushy eyebrows, widely-spaced teeth, and a broad and depressed nasal bridge with a wide nasal tip), brachydactyly with widening of the distal phalanges, short stature and moderate intellectual deficit.
Etiologija
The syndrome is caused by mutations in the ATRX gene (Xq13.3).
Prognoza
bolest_prognoza
Diferencijalna dijagnoza
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Tretman
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Dijagnostičke metode
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Antenatalna dijagnoza
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Epidemiologija
Prevalence is unknown but the syndrome was originally described in 1988 in six males from three generations of one family.
Genetsko savetovanje
The syndrome is transmitted as an X-linked recessive trait with skewed X-inactivation in carrier females.
Terapija
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Klinička istraživanja
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