Mowat-Wilson syndrome (Q94200): Difference between revisions
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A síndrome de Mowat-Wilson é uma síndrome de anomalia congênita múltipla caracterizada por um fenótipo facial distinto (testa alta, protuberância frontal, sobrancelhas grandes, alargadas medialmente e esparsas na parte média, hipertelorismo, olhos profundos, porém grandes, lóbulos de orelha grandes e erguidos com um depressão central, nariz em sela com ponta nasal arredondada proeminente, columela proeminente, boca aberta com lábio superior em forma de M, sorriso frequente e um queixo proeminente, mas estreito pontudo e triangular), deficiência intelectual moderada a grave, epilepsia e malformações congênitas variáveis incluindo doença de Hirschsprung (HSCR), anomalias geniturinárias (em particular hipospadia em homens), defeitos cardíacos congênitos, agenesia do corpo caloso e anomalias oculares. | |||
| description / en | description / en | ||
Mowat-Wilson syndrome is a multiple congenital anomaly syndrome characterised by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease (HSCR), genitourinary anomalies (in particular hypospadias in males), congenital heart defects, agenesis of the corpus callosum and eye anomalies. | |||
Revision as of 09:19, 16 August 2026
Mowat-Wilson syndrome is a multiple congenital anomaly syndrome characterised by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease (HSCR), genitourinary anomalies (in particular hypospadias in males), congenital heart defects, agenesis of the corpus callosum and eye anomalies.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1985672762 |
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| English | Mowat-Wilson syndrome |
Mowat-Wilson syndrome is a multiple congenital anomaly syndrome characterised by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease (HSCR), genitourinary anomalies (in particular hypospadias in males), congenital heart defects, agenesis of the corpus callosum and eye anomalies. |
