Preferred Label : Mowat-Wilson syndrome;
ICD-11 definition : Mowat-Wilson syndrome is a multiple congenital anomaly syndrome characterized 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.;
Origin ID : 1985672762;
Currated CISMeF NLP mapping
Mowat-Wilson syndrome is a multiple congenital anomaly syndrome characterized 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.
