About Meier Gorlin Syndrome

Meier-Gorlin syndrome is a condition primarily characterized by short stature. It is considered a form of primordial dwarfism because the growth problems begin before birth (intrauterine growth retardation). After birth, affected individuals continue to grow at a slow rate. Other characteristic features of this condition are underdeveloped or missing kneecaps (patellae), small ears, and, often, an abnormally small head (microcephaly). Despite a small head size, most people with Meier-Gorlin syndrome have normal intellect.

Some people with Meier-Gorlin syndrome have other skeletal abnormalities, such as unusually narrow long bones in the arms and legs, a deformity of the knee joint that allows the knee to bend backwards (genu recurvatum), and slowed mineralization of bones (delayed bone age).

Most people with Meier-Gorlin syndrome have distinctive facial features. In addition to being abnormally small, the ears may be low-set or rotated backward. Additional features can include a small mouth (microstomia), an underdeveloped lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge.

Abnormalities in sexual development may also occur in Meier-Gorlin syndrome. In some males with this condition, the testes are small or undescended (cryptorchidism). Affected females may have unusually small external genital folds (hypoplasia of the labia majora) and small breasts. Both males and females with this condition can have sparse or absent underarm (axillary) hair.

Additional features of Meier-Gorlin syndrome can include difficulty feeding and a lung condition known as pulmonary emphysema or other breathing problems.

How common is Meier Gorlin Syndrome?

Meier-Gorlin syndrome is a ultra rare condition; however, its prevalence is unknown.

What causes Meier Gorlin Syndrome?

Meier-Gorlin syndrome can be caused by mutations in one of eight genes: ORC1, ORC4, ORC6, CDT1, CDC6, CDC45L, MCM5 and GMNN.

These genes provide instructions for making one of a group of proteins known as the pre-replication complex. This complex regulates initiation of the copying (replication) of DNA before cells divide. Specifically, the pre-replication complex attaches (binds) to certain regions of DNA known as origins of replication, allowing copying of the DNA to begin at that location. This tightly controlled process, called replication licensing, helps ensure that DNA replication occurs only once per cell division and is required for cells to divide.

Mutations in any one of these genes impair formation of the pre-replication complex and disrupt replication licensing; however, it is not clear how a reduction in replication licensing leads to Meier-Gorlin syndrome. Researchers speculate that such a reduction delays the cell division process, which impairs growth of the bones and other tissues during development. Some research suggests that some of the pre-replication complex proteins have additional functions, impairment of which may contribute to features of Meier-Gorlin syndrome, such as delayed development of the kneecaps and ears.

Is Meier Gorlin Syndrome inherited?

Meier Gorlin Syndrome is mostly  inherited in an Autosomal Recessive Pattern..  However the form of  Meier Gorlin Syndrome by the GMNN gene is inherited in an Autosomal Dominant Pattern

What gene is associated with Meier Gorlin Syndrome?

Information Being Reviewed and Updated

How is a diagnosis made?

Information Being Reviewed and Updated

What are the physical characteristics?

Information Being Reviewed and Updated

What are the associated medical problems?

Information Being Reviewed and Updated

What are things to watch out for?

Information Being Reviewed and Updated

What are the best care practices?

Information Being Reviewed and Updated

Persons perspective

Information Being Reviewed and Updated

Parents perspective

Information Being Reviewed and Updated

Research/Clinical papers available


Please note the information on this page does not replace individual medical advice or provides a diagnosis. If any parent or guardian visiting this site thinks their child has a form of Microcephalic Primordial Dwarfism, they should consult a local Clinical Geneticist or ask their local paediatrician/doctor to make a referral to one of our doctors on our Medical Advisory Board.

Familes Supported


Amazing people

Frequently Asked Questions:

I think our child has Microcephalic Primordial Dwarfism. Can you help us?

Yes we can! All you need to do is send an email to Sue Connerty at sue.connerty@walkingwithgiants.org and she will get back to you via email asking some information about your child. On receipt of your reply, she will the assess the information and consult with doctors on our Medical Advisory Board. If all information corresponds with the criteria needed for the WWGF to your child and your family, The WWGF will then send you some information how to regisiter for support and unite with other families affected by Microcephalic Primordial Dwarifism.

How can I help the Walking With Giants Foundation?
There are many ways to help the Walking With GIants Foundation. Please visit our 'Get Involved' page. If there is something that you would like do for the WWGF, we would love to her from you. Please send us an email on enquiries@walkingwithgiants.org with you ideas or specific area of support.
How do I make a donation?

There are several ways that you can make a donation, please visit our 'Making A Donation' page.

If you would like your donation to be recognised please let us know by:

Calling us 0151 526 0134 (from within the UK),

Calling us +44 151 526 0134 (from outside of the UK),

Email us on enquiries@walkingwithgiants.org,

or by writing to us at, Walking With Giants Foundation, PO Box 85, Maghull, Liverpool, L31 6WW.