Paula and Bobby
Parents of Lillie
Alazami syndrome; ALAZS
What is Alazami syndrome; ALAZS?
Alazami syndrome; ALAZS is a rare disease. It is also known as Facial Dysmorphism, Intellectual Disability, And Primordial Dwarfism.
Alazami syndrome is an autosomal recessive microcephalic primordial dwarfism characterized by dysmorphic features (broad nose, malar hypoplasia, wide mouth, full lips and abnormally set teeth), skeletal abnormalities and severe intellectual disability. The disorder is caused by mutations in LARP7.
Ling et al. (2016) described a two-year-old girl with compound heterozygous mutations in LARP7 gene and clinical characteristics of Alazami syndrome. The clinical features included low birth length, birth weight, and head circumference, developmental delay and dysmorphic features (prominent forehead, blue/grey sclera, deep-set eyes, low set ears, flat and wide nasal bridge, triangular facies, malar hypoplasia, wide mouth, full lips, and widely spaced teeth). Additional features included proportionate short stature, delayed bone age, poor balance with a wide-based gait, and hypersensitivity to touch and sound.
Two siblings from a consanguineous family and homozygous frameshift mutation in the LARP7 were reported by Imbert-Bouteille et al. (2018). They had severe growth restriction, severe intellectual disability and dysmorphic features (broad nose, malar hypoplasia, wide mouth, full lips and abnormally set teeth). Other characteristics included mild microcephaly, stereotypic hand-wringing, severe anxiety, thickened skin over the hands and feet, cutis marmorata, slender bones with increased cortical thickness, thin calvarium and high vertebrae with small intervertebral disks.
* This information is courtesy of the L M D.
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What gene changes cause Alazami syndrome; ALAZS?
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 - 615071 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
LARP7 - 4q25
What are the main symptoms of Alazami syndrome; ALAZS?
The typical symptoms of the syndrome are:
Microcephaly, Short philtrum, Scoliosis, Wide nose, Intellectual disability, severe, Autosomal recessive inheritance, Wide mouth, Decreased body weight, Severe short stature, Malar flattening
How does someone get tested for Alazami syndrome; ALAZS?
The initial testing for Alazami syndrome; ALAZS 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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