National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Alveolar capillary dysplasia


Other Names:
Congenital alveolar capillary dysplasia; Pulmonary hypertension, familial persistent of the newborn; Familial persistent pulmonary hypertension of the newborn; Congenital alveolar capillary dysplasia; Pulmonary hypertension, familial persistent of the newborn; Familial persistent pulmonary hypertension of the newborn; Alveolar capillary dysplasia with pulmonary venous misalignment; Alveolar capillary dysplasia with misalignment of pulmonary veins See More
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 210122

Definition
Congenital alveolar capillary dysplasia (ACD) is a rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension.

Visit the Orphanet disease page for more resources.
Last updated: 9/1/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Pulmonary arterial hypertension
Increased blood pressure in blood vessels of lungs
0002092
Respiratory distress
Breathing difficulties
Difficulty breathing
[ more ] 		0002098
30%-79% of people have these symptoms
Hypoplastic left heart
Underdeveloped left heart
0004383
Intestinal malrotation 0002566
Patent ductus arteriosus 0001643
5%-29% of people have these symptoms
Abnormal vertebral morphology 0003468
Absent gallbladder 0011467
Aganglionic megacolon
Enlarged colon lacking nerve cells
0002251
Anal atresia
Absent anus
0002023
Annular pancreas 0001734
Aortic valve stenosis
Narrowing of aortic valve
0001650
Asplenia
Absent spleen
0001746
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] 		0001631
Atrioventricular canal defect 0006695
Bicuspid aortic valve
Aortic valve has two leaflets rather than three
0001647
Duodenal stenosis 0100867
Hydronephrosis 0000126
Pulmonary valve atresia 0010882
Single umbilical artery
Only one artery in umbilical cord instead of two
0001195
Tetralogy of Fallot 0001636
Tracheoesophageal fistula 0002575
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
Volvulus 0002580
Percent of people who have these symptoms is not available through HPO
Abnormal lung lobation 0002101
Abnormality of the pulmonary veins
Abnormality of lung veins
0011718
Autosomal dominant inheritance 0000006
Autosomal recessive inheritance 0000007
Duodenal atresia
Absence or narrowing of first part of small bowel
0002247
Hydroureter 0000072
Hypertension 0000822
Meckel diverticulum 0002245
Neonatal death
Neonatal lethal
0003811
Polyhydramnios
High levels of amniotic fluid
0001561
Pulmonary insufficiency 0010444
Right-to-left shunt 0001694
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Last updated: 7/1/2020

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

  • Nitric oxide (Brand name: INOmax®) - Manufactured by INO Therapeutics, Inc.
    FDA-approved indication: In conjunction with ventilatory support and other appropriate agents, in the treatment of term and near-term (>34 weeks) neonates with hypoxic respiratory failure associated with clinical or echocardiographic evidence of pulmonary hypertension, where it i
    National Library of Medicine Drug Information Portal

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Alveolar capillary dysplasia. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Alveolar capillary dysplasia. Click on the link to view a sample search on this topic.

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