Ballard syndrome
Definicija
Ballard syndrome is characterized by hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature.
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Pun naziv
Ballard syndrome
Kratki naziv
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Sinonimi
Pitt-Williams brachydactyly_x000D_Brachydactyly types B and E combined
Orpha broj
Kategorija
Podkategorija
Naziv na stranom jeziku
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Prevalenca
NULL
Nasleđivanje
Autosomal dominant
Period početka bolesti
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ICD 10
OMIM
UMLS
GARD
MEDDRA
Tekstualni opis
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Etiologija
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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
The syndrome has been described in 12 members from four generations of one family.
Genetsko savetovanje
Transmission appears to be autosomal dominant.
Terapija
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Klinička istraživanja
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