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.

Read More

* This information is courtesy of the L M D.

If you find a mistake or would like to contribute additional information, please email us at: [email protected]

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.

Get Faster and More Accurate Genetic Diagnosis!

More than 250,000 patients successfully analyzed!
Don't wait years for a diagnosis. Act now and save valuable time.

Start Here!

"Our road to a rare disease diagnosis was a 5-year journey that I can only describe as trying to take a road trip with no map. We didn’t know our starting point. We didn’t know our destination. Now we have hope."


Paula and Bobby
Parents of Lillie

What is FDNA Telehealth?

FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.

With a hospital technology recommended by leading geneticists, our unique platform connects patients with genetic experts to answer their most pressing questions and clarify any concerns they may have about their symptoms.

Benefits of FDNA Telehealth

FDNA icon


Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.

FDNA icon


FDNA Telehealth provides facial analysis and screening in minutes, followed by fast access to genetic counselors and geneticists.

FDNA icon

Ease of Use

Our seamless process begins with an initial online diagnosis by a genetic counselor and follows by consultations with geneticists and genetic testing.

FDNA icon

Accuracy & Precision

Advanced artificial intelligence (AI) capabilities and technology with a 90% accuracy rate for a more accurate genetic analysis.

FDNA icon

Value for

Faster access to genetic counselors, geneticists, genetic testing, and a diagnosis. As fast as within 24 hours if required. Save time and money.

FDNA icon

Privacy & Security

We guarantee the utmost protection of all images and patient information. Your data is always safe, secure, and encrypted.

FDNA Telehealth can bring you closer to a diagnosis.
Schedule an online genetic counseling meeting within 72 hours!