Adams-Oliver syndrome 4; AOS4

What is Adams-Oliver syndrome 4; AOS4?

Adams-Oliver syndrome 4; AOS4 is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

Adams-Oliver syndrome is inherited in an autosomal dominant or an autosomal recessive manner. Autosomal recessive forms are more severe. It is characterized by aplasia cutis congenita, terminal transverse limb defects and additional congenital abnormalities.

Families without DOCK6 mutations were evaluated by Shaheen et al., (2013). They mapped to 3p14.1 and mutations were found in EOGT which encodes O-GlcNAc. Cohen et al., (2014) described further families homozygous for EOGT mutations.

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. Aplasia cutis congenita was present in the scalp in 99% of case. Other features were small nails (51%), cutaneous syndactyly, bony syndactyly, or both (29%), brain anomalies (35%) and microcephaly (7%). Most frequent 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%), thin or absent corpus callosum (4%). Most frequent heart and vascular defects were cutis marmorata telangiectasia congenita (19%), no anomalies (10%), prominent vessels (8%), bicuspid or parachute aortic valve (6%), ventricular septal defect (6%), tortuous vessels (5%), and atrial septal defect (5%). Liver abnormalities were present in 11% of probands. Cutis marmorata telangiectasia congenita was found in 19% of the probands and other vascular anomalies were seen in 14%. Hemorrhage was listed as the cause of death for 5/25 deaths reported. Affected individuals in nonfamilial cases were reported to have hepatoportal sclerosis with portal hypertension and oesophageal varices.

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* This information is courtesy of the L M D.

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What gene changes cause Adams-Oliver syndrome 4; AOS4?

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

Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.

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 - 615297 (please check the OMIM page for updated information)

The syndrome can be caused by mutations in the following gene/s location/s:
EOGT - 3p14.1

What are the main symptoms of Adams-Oliver syndrome 4; AOS4?

The typical symptoms of the syndrome are:
Umbilical hernia, Ventricular septal defect, Phenotypic variability, Toenail dysplasia, Autosomal recessive inheritance, Patent ductus arteriosus, Hypoplastic toenails, Short toe, Atrial septal defect, Cutis marmorata

How does someone get tested for Adams-Oliver syndrome 4; AOS4?

The initial testing for Adams-Oliver syndrome 4; AOS4 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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