12p duplication (Q90082): Difference between revisions
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| description / pt-br | description / pt-br | ||
A trissomia não distal 12p é um transtorno cromossômico extremamente raro caracterizado por malformações craniofaciais (face redonda, bochechas proeminentes, testa saliente alta, ponte nasal larga e plana, nariz curto com narinas antevertidas, filtro longo, lábio inferior proeminente e evertido, inserção baixa de orelhas, hélice anormalmente dobrada, anti-hélice protuberante), retardo de crescimento pós-natal, déficit intelectual e retardo psicomotor, hipotonia generalizada, mãos largas anormalmente curtas e largas e/ou outras anormalidades. | |||
| description / en | description / en | ||
Non-distal trisomy 12p is an extremely rare chromosomal disorder characterised by craniofacial malformations (round face, prominent cheeks, high bulging forehead, broad and flat nasal bridge, short nose with anteverted nostrils, long philtrum, prominent and everted lower lip, low-set ears, abnormally folded helix, protuberant antihelix), postnatal growth retardation, intellectual deficit and psychomotor retardation, generalised hypotonia, abnormally short wide hands and/or other abnormalities. | |||
Revision as of 17:01, 15 August 2026
Non-distal trisomy 12p is an extremely rare chromosomal disorder characterised by craniofacial malformations (round face, prominent cheeks, high bulging forehead, broad and flat nasal bridge, short nose with anteverted nostrils, long philtrum, prominent and everted lower lip, low-set ears, abnormally folded helix, protuberant antihelix), postnatal growth retardation, intellectual deficit and psychomotor retardation, generalised hypotonia, abnormally short wide hands and/or other abnormalities.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_105981078 |
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| English | 12p duplication |
Non-distal trisomy 12p is an extremely rare chromosomal disorder characterised by craniofacial malformations (round face, prominent cheeks, high bulging forehead, broad and flat nasal bridge, short nose with anteverted nostrils, long philtrum, prominent and everted lower lip, low-set ears, abnormally folded helix, protuberant antihelix), postnatal growth retardation, intellectual deficit and psychomotor retardation, generalised hypotonia, abnormally short wide hands and/or other abnormalities. |
