Growth delay-hydrocephaly-lung hypoplasia syndrome

Growth delay-hydrocephaly-lung hypoplasia syndrome is a rare, genetic, developmental anomaly syndrome characterized by intrauterine growth retardation, postnatal growth delay, severe hydrocephaly due to aqueductal stenosis, severe lung hypoplasia and facial dysmorphism (including high forehead, anteverted nares, small mouth with downturned corners, micrognathia, low set ears).

Clinical Features

The syndrome is characterized by several clinical features, including:

• Intrauterine growth retardation: This refers to poor growth of a baby while in the mother's womb during pregnancy. Specifically, it means the developing baby weighs less than 90% of other babies at the same gestational age.

• Postnatal growth delay: This refers to a slower than expected rate of growth after birth.

• Severe hydrocephaly: Hydrocephaly is a condition in which an accumulation of cerebrospinal fluid (CSF) occurs within the brain. This typically causes increased pressure inside the skull. Severe hydrocephaly is a more intense form of this condition.

• Severe lung hypoplasia: Lung hypoplasia is a condition characterized by underdevelopment of the lungs. Severe lung hypoplasia refers to a more serious underdevelopment of the lungs.

• Facial dysmorphism: This refers to abnormal differences in the shape or size of facial features.

Genetics

Growth delay-hydrocephaly-lung hypoplasia syndrome is a genetic disorder, which means it is caused by abnormalities in genes or chromosomes. It is typically inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the defective gene, one from each parent, in order to express the disorder.

Diagnosis and Treatment

Diagnosis of Growth delay-hydrocephaly-lung hypoplasia syndrome is typically made based on the presence of characteristic symptoms, a detailed patient history, and thorough clinical evaluation. Genetic testing can confirm the diagnosis.

Treatment is symptomatic and supportive. This may include surgery to manage hydrocephaly, therapies to support lung function, and interventions to support growth and development.

See Also

• Genetic disorder
• Hydrocephaly
• Lung hypoplasia
• Intrauterine growth retardation
• Postnatal growth delay

NIH genetic and rare disease info

• NIH info on Growth delay-hydrocephaly-lung hypoplasia syndrome

Growth delay-hydrocephaly-lung hypoplasia syndrome is a rare disease.

Growth delay-hydrocephaly-lung hypoplasia syndrome Resources
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