Pseudoaminopterin syndrome (Q93991): Difference between revisions
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A síndrome da pseudoaminopterina é uma síndrome de anomalias do desenvolvimento que se assemelha à embriopatia de aminopterina sem história de exposição fetal à aminopterina. É caracterizada por crânio (craniossinostose e abóbada craniana fracamente mineralizada), dismórfica (hipertelorismo ocular, anomalias da fenda palpebral, micrognatia fenda labial e / ou palato arqueado alto e orelhas pequenas e inseridas / giradas) e membros (braquidactilia, sindactilia e clinodactilia) anomalias, associadas a déficit intelectual leve a moderado e baixa estatura. | |||
| description / en | description / en | ||
Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterised by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature. | |||
Revision as of 09:06, 16 August 2026
Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterised by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_893045173 |
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| English | Pseudoaminopterin syndrome |
Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterised by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature. |
