Paula and Bobby
Parents of Lillie
Yellow Nail syndrome
What is Yellow Nail syndrome?
Yellow Nail syndrome is a rare disease. It is also known as Lymphedema And Yellow Nails Yns.
The Yellow Nail syndrome consists of slow-growing discoloured nails, peripheral oedema, chronic recurrent pleural effusions, bronchiectasis, sinusitis and other respiratory infections. The lymphoedema has onset on average at 40 years, but in about 10% of cases onset may be at birth. Govaert et al., (1992) reported an affected neonate with hydrops whose mother was also affected. Danenberg et al., (1995) reported a 74 year old woman with xanthogranulomatous pyelonephritis on the same side as her pleural effusion. Apparent autosomal dominant inheritance has been reported. Slee et al., (2000) reported a further case presenting with hydrops at 23 weeks of gestation. The mother had Yellow Nail syndrome with bronchiectasis.
Three sibs were reported by Lambert et al., (2006). Two had only the nail involvement, but the youngest had in addition, pleural effusions, pulmonary hypertension and chylothorax, possibly secondary to pulmonary lymphangiectasia.
Hoque et al., (2007) question whether the relatively few families with a positive family history are sufficient to make the condition a simple Mendelian autosomal dominant. They report 11 cases with a relevant family history in one.
An Egyptian boy, born to cousin parents had the syndrome with nonimmune fetal hydrops and bilateral bluish conjunctival pigmentation (Nanda et al., 2010). An older bother diedwith general anasarca.
* This information is courtesy of the L M D.
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What gene changes cause Yellow Nail syndrome?
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.
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 - 153300 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Yellow Nail syndrome?
The typical symptoms of the syndrome are:
Yellow nails, Respiratory failure, Recurrent respiratory infections, Slow-growing nails, Abnormal toenail morphology, Abnormal pleura morphology, Abnormality of nail color, Abnormality of the musculature, Abnormality of the bronchi, Abnormal fingernail morphology, Hypoplasia of lymphatic vessels, Lymphedema, Predominantly lower limb lymphedema, Neoplasm, Autosomal dominant inheritance, Sinusitis
How does someone get tested for Yellow Nail syndrome?
The initial testing for Yellow Nail syndrome 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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