Acromelic Frontonasal "dysplasia"

What is Acromelic Frontonasal "dysplasia"?

Acromelic Frontonasal "dysplasia" is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

This condition has many features in common with acrocallosal, Meckel and hydrolethalus syndromes. It is well reviewed by Verloes et al., (1992). The main features are frontonasal dysplasia, preaxial polydactyly of the feet, postaxial polydactyly, a posterior encephalocoele, agenesis of the corpus callosum, Dandy-Walker malformation, tibial hypoplasia, and an epibulbar dermoid. Not all cases have a 'full-house' so that differentiation from the above syndromes can be difficult - see Toriello et al., (1986), for example. Most cases are sporadic, but Warkany et al., (1973) reported affected maternal half-sisters and Gorlin et al., (1990) mention affected identical twins and parental consanguinity in unpublished cases. The family reported by Hing et al., (2004), had an affected father who was mild (gap between maxillary incisors and broad/bifid nasal tip and wide feet) and an affected paternal grandfather (and possibly a mildly affected cousin).
The girl reported by Sueldo and Fernandes (1993) most likely had this condition (Verloes, 1994). She had, in addition, an absent left tibia and crossed-fused renal ectopia with duplication of the collecting system. Five further cases were reported by Slaney et al., (1999) together with a good review. A case mentioned by Rittler and Castilla (2000), had a postaxial polydactyly. THe single case reported by Hing et al., (2004), had a preaxial polydactyly.
Mutations have now been found in ZSWIM6 (Smith et al., 2014).

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 Acromelic Frontonasal "dysplasia"?

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.

Uncertain - The exact mode of inheritance was unknown at the time this entry was recorded.

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.

The syndrome can be caused by mutations in the following gene/s location/s:

What are the main symptoms of Acromelic Frontonasal "dysplasia"?

The typical symptoms of the syndrome are:

How does someone get tested for Acromelic Frontonasal "dysplasia"?

The initial testing for Acromelic Frontonasal "dysplasia" 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!