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
Podkategorija
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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