Adams-Oliver syndrome 5; AOS5

What is Adams-Oliver syndrome 5; AOS5?

Adams-Oliver syndrome 5; AOS5 is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

Hassed et al. (2017) reviewed 385 previously reported patients (139 non-familial and 246 familial probands and family members) and 13 unreported individuals with Adams-Oliver syndrome. Clinical features were aplasia cutis congenita (99%), small nails (51%), cutaneous syndactyly, bony syndactyly, or both (29%), brain anomalies (35%) and microcephaly (7%). Central nervous system abnormalities included calvarial defect without brain anomaly (25%), calvarial defect with brain anomaly (11%), microcephaly with other anomalies (6%), calcifications secondary to vascular sequelae (5%), enlarged ventricles (5%), isolated microcephaly (4%) and thin or absent corpus callosum (4%). Most prevalent heart and vascular defects were cutis marmorata telangiectasia congenita (19%), prominent vessels (8%), bicuspid or parachute aortic valve (6%), ventricular septal defect (6%), tortuous vessels (5%), and atrial septal defect (5%); no anomalies were found in 10%. Liver abnormalities were present in 11% of probands. Hemorrhage was listed as the cause of death for 5/25 deaths reported.

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* This information is courtesy of the L M D.

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What gene changes cause Adams-Oliver syndrome 5; AOS5?

The syndrome is inherited in the following inheritance pattern/s:

Autosomal Dominant - In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.

OMIM Number - 616028 (please check the OMIM page for updated information)

The syndrome can be caused by mutations in the following gene/s location/s:
NOTCH1 - 9q34.3

What are the main symptoms of Adams-Oliver syndrome 5; AOS5?

The typical symptoms of the syndrome are:
Cavernous hemangioma, Aplasia cutis congenita, Pulmonic stenosis, Right ventricular hypertrophy, Umbilical hernia, Portal vein thrombosis, Splenomegaly, Pulmonary arterial hypertension, Syndactyly, Seizure, Inguinal hernia, Hypersplenism, Brachydactyly, Esophageal varix, Dystrophic toenail

How does someone get tested for Adams-Oliver syndrome 5; AOS5?

The initial testing for Adams-Oliver syndrome 5; AOS5 can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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