Paula and Bobby
Parents of Lillie
Abcd syndrome: Abcds
What is Abcd syndrome: Abcds?
Abcd syndrome: Abcds is a rare disease. It is also known as ABCD syndrome Albinism, Black Lock, Cell Migration Disorder Of The Neurocytes Of The Gut, And Deafness BADS .
This syndrome of Bads is an eponym for Black locks, oculocutaneous Albinism and Deafness. In this condition the hair and skin are congenitally white except for clusters of black hair occurring in locks. There are also coin-shaped brown macules on the skin and a profound congenital sensorineural deafness. The eyes are affected in that fundal pigment is absent with a consequent nystagmus. In contrast to other forms of albinism, melanocytes from hair and skin were absent except from pigmented areas.
Gross et al., (1995) reported a consanguineous Kurdish pedigree where four out of fourteen children had a form of albinism, two with black locks. One sib was reported in detail. She had depigmentation of skin with black locks in the temporo-occipital region and blue irises. There was retinal depigmentation. There was profound sensorineural deafness. Investigations showed aganglionosis of the colon and lack of neurocytes and neural fibres in the small intestine.
Verheij et al., (2002) demonstrated a homozygous nonsense mutation in the EDNRB gene in a patient first reported by Gross et al (1995).
* This information is courtesy of the L M D.
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What gene changes cause Abcd syndrome: Abcds?
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 - 600501 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
EDNRB - 13q22.3
What are the main symptoms of Abcd syndrome: Abcds?
The typical symptoms of the syndrome are:
Large for gestational age, Autosomal recessive inheritance, Albinism, Aganglionic megacolon, Hearing impairment, Hypopigmentation of the fundus, Abnormal auditory evoked potentials
How does someone get tested for Abcd syndrome: Abcds?
The initial testing for Abcd syndrome: Abcds 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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