Holoprosencephaly (Q46016): Difference between revisions
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Holoprosencefalia é uma malformação cerebral resultante da clivagem incompleta do prosencéfalo, ocorrendo entre o 18º e o 28º dia de gestação e afetando o prosencéfalo e a face. Na maioria dos casos, são observadas anomalias faciais: ciclopia, tromba e fenda labiopalatina mediana ou bilateral nas formas graves e hipotelorismo ocular ou incisivo central superior mediano solitário nas formas menores. Esses últimos defeitos da linha média podem ocorrer sem as malformações cerebrais (microformas). Crianças com HPE têm muitos problemas de saúde: atraso no desenvolvimento e dificuldades de alimentação, epilepsia e instabilidade de temperatura, frequência cardíaca e respiração. Distúrbios endócrinos como diabetes insipidus, hipoplasia adrenal, hipogonadismo, hipoplasia tireoidiana e deficiência de hormônio do crescimento são frequentes. | |||
| description / en | description / en | ||
Holoprosencephaly is a brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and the 28th day of gestation and affecting both the forebrain and the face. In most of the cases, facial anomalies are observed: cyclopia, proboscis and median or bilateral cleft lip/palate in severe forms, and ocular hypotelorism or solitary median maxillary central incisor in minor forms. These latter midline defects can occur without the cerebral malformations (microforms). Children with HPE have many medical problems: developmental delay and feeding difficulties, epilepsy, and instability of temperature, heart rate and respiration. Endocrine disorders like diabetes insipidus, adrenal hypoplasia, hypogonadism, thyroid hypoplasia and growth hormone deficiency are frequent. | |||
Revision as of 14:19, 13 August 2026
Holoprosencephaly is a brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and the 28th day of gestation and affecting both the forebrain and the face. In most of the cases, facial anomalies are observed: cyclopia, proboscis and median or bilateral cleft lip/palate in severe forms, and ocular hypotelorism or solitary median maxillary central incisor in minor forms. These latter midline defects can occur without the cerebral malformations (microforms). Children with HPE have many medical problems: developmental delay and feeding difficulties, epilepsy, and instability of temperature, heart rate and respiration. Endocrine disorders like diabetes insipidus, adrenal hypoplasia, hypogonadism, thyroid hypoplasia and growth hormone deficiency are frequent.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | LA05.2 |
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| English | Holoprosencephaly |
Holoprosencephaly is a brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and the 28th day of gestation and affecting both the forebrain and the face. In most of the cases, facial anomalies are observed: cyclopia, proboscis and median or bilateral cleft lip/palate in severe forms, and ocular hypotelorism or solitary median maxillary central incisor in minor forms. These latter midline defects can occur without the cerebral malformations (microforms). Children with HPE have many medical problems: developmental delay and feeding difficulties, epilepsy, and instability of temperature, heart rate and respiration. Endocrine disorders like diabetes insipidus, adrenal hypoplasia, hypogonadism, thyroid hypoplasia and growth hormone deficiency are frequent. |
