Rare Immunology News

Disease Profile

Adams-Oliver syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Neonatal

ICD-10

Q87.2

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

rnn-autosomaldominant.svg

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

rnn-autosomalrecessive.svg

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

no.svg

Not applicable

no.svg

Other names (AKA)

Limb scalp and skull defects; AOS; Congenital scalp defects with distal limb anomalies;

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases; Skin Diseases

Summary

Adams-Oliver syndrome (AOS) is a rare disease characterized by an abnormality of skin development (areas of missing skin on the scalp called aplasia cutis congenita) and malformations of the hands and feet (terminal transverse limbs defects). The aplasia cutis may involve only the skin or include the skull under the skin. The terminal transverse limb defects may include webbed fingers or toes (syndactyly) and short or missing fingers or toes (brachydactyly or oligodactyly, respectively). Other signs and symptoms may include additional skeletal abnormalities of the limbs; cutis marmorata telangiectatica congenita (a blood vessel disorder); pulmonary hypertension; heart defects; and neurological problems.[1] Severity can vary greatly among people with the syndrome and may be lethal in some cases.[2] AOS is caused by mutations in any of six known genes. It may be inherited in an autosomal dominant or autosomal recessive manner, depending on the genetic cause. In some cases, the genetic cause is unknown.[1] Treatment depends on the severity and specific features in each person, and often involves a team of specialists.[3]

Symptoms

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.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Absent hand
0004050
Absent toe
0010760
Aplasia cutis congenita
Absence of part of skin at birth
0001057
Calvarial skull defect
Cranial defect
Skull defect

[ more ]

0001362
Cutis marmorata
0000965
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Sparse hair
0008070
30%-79% of people have these symptoms
Abnormal pulmonary valve morphology
0001641
Abnormality of the metacarpal bones
Abnormality of the long bone of hand
0001163
Brachydactyly
Short fingers or toes
0001156
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Finger syndactyly
0006101
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Microphthalmia
Abnormally small eyeball
0000568
Pulmonary artery atresia
0004935
Short distal phalanx of finger
Short outermost finger bone
0009882
Split hand
Claw hand
Claw hand deformities
Claw hands
Claw-hand deformities
Split-hand

[ more ]

0001171
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Talipes
0001883
Tetralogy of Fallot
0001636
5%-29% of people have these symptoms
Absent fingernail
0001817
Alopecia
Hair loss
0001596
Aplastic/hypoplastic toenail
Absent/small toenails
Absent/underdeveloped toenails

[ more ]

0010624
Arteriovenous malformation
0100026
Ascites
Accumulation of fluid in the abdomen
0001541
Cirrhosis
Scar tissue replaces healthy tissue in the liver
0001394
Congenital hepatic fibrosis
Excessive buildup of connective tissue and scarring of liver at birth
0002612
EEG abnormality
0002353
Encephalocele
0002084
Esophageal varix
Enlarged vein in esophagus
0002040
Gastrointestinal hemorrhage
Gastrointestinal bleeding
0002239
Hemiparesis
Weakness of one side of body
0001269
Hypertonia
0001276
Hypoplastic fingernail
Small fingernail
Underdeveloped fingernail

[ more ]

0001804
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Leukopenia
Decreased blood leukocyte number
Low white blood cell count

[ more ]

0001882
Periventricular leukomalacia
0006970
Porencephalic cyst
Cavity within brain
0002132
Portal hypertension
0001409
Premature birth
Premature delivery of affected infants
Preterm delivery

[ more ]

0001622
Pulmonary arterial hypertension
Increased blood pressure in blood vessels of lungs
0002092
Seizure
0001250
Thrombocytopenia
Low platelet count
0001873
Percent of people who have these symptoms is not available through HPO
Aortic valve stenosis
Narrowing of aortic valve
0001650
Aplasia cutis congenita on trunk or limbs
0007589
Aplasia cutis congenita over posterior parietal area
0007590
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
Autosomal dominant inheritance
0000006
Bicuspid aortic valve
Aortic valve has two leaflets rather than three
0001647
Cleft palate
Cleft roof of mouth
0000175
Cleft upper lip
Harelip
0000204
Cortical dysplasia
0002539
Esotropia
Inward turning cross eyed
0000565
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Global developmental delay
0001263
Hypertension
0000822
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Hypoplastic left heart
Underdeveloped left heart
0004383
Imperforate hymen
0030011
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

Organizations

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

    Learn more

    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

    • More information on limb abnormalities can be found at the following link from MedlinePlus, the National Library of Medicine Web site designed to help you research your health questions.
    • Genetics Home Reference (GHR) contains information on Adams-Oliver syndrome. 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 Adams-Oliver syndrome. Click on the link to view a sample search on this topic.

        References

        1. Adams-Oliver syndrome. Genetics Home Reference. November, 2015; https://ghr.nlm.nih.gov/condition/adams-oliver-syndrome.
        2. Seo JK & cols. A Case of Adams-Oliver Syndrome. Ann Dermatol. February, 2010; 22(1):96-98. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2883411/.
        3. Adams Oliver syndrome. Orphanet. November, 2006; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974.
        4. Lehman A, Wuyts W & Patel MS. Adams-Oliver Syndrome. GeneReviews. 2016; https://www.ncbi.nlm.nih.gov/books/NBK355754/?report=reader.
        5. Adams Oliver syndrome. NORD. 2009; https://rarediseases.org/rare-diseases/adams-oliver-syndrome/.
        6. Beryl R. Benacerraf. Limb Abnormalities. Ultrasound of Fetal Syndromes, Second Edition. Canada: Elsevier, Inc; 2008; 223.
        7. Nadia Iftikhar et. al. Adams-Oliver Syndrome. Journal of the College of Physicians and Surgeons Pakistan. 2014; 24 (Special Supplement 2):S76-S77.
        8. Southgate L, et. al. Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. Circ Cardiovasc Genet. August, 2015; 8(4):572-581.

        Rare Immunology News