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Disease Information

Summary
A rare frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.
Summary
A rare frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.A rare frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.
Resource(s) for Medical Professionals and Scientists on This Disease:

About Acromelic frontonasal dysostosis

Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease:

  • Population Estimate:Fewer than 1,000 people in the U.S. have thisdisease.
  • Symptoms:May start to appear during Pregnancy and as a Newborn.
  • Cause:This disease is caused by a change in the genetic material (DNA).
  • Organizations:GARD is not currently aware of organizations specific to this disease.
  • Categories:BirthdefectsGeneticdiseasesNeurologicaldiseases

Causes

What Causes This Disease?

Genetic Mutations

Can This Disease Be Passed Down From Parent to Child?

Autosomal Dominant

When Do Symptoms of Acromelic frontonasal dysostosis Begin?

Symptoms of this disease may start to appear during Pregnancy and as a Newborn.

The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms of some diseases may begin at any age. Knowing when symptoms may have appeared can help medical providers find the correct diagnosis.
Prenatal Selected
Before Birth
Newborn Selected
Birth-4 weeks
Infant
1-23 months
Child
2-11 years
Adolescent
12-18 years
Adult
19-65 years
Older Adult
65+ years
Symptoms may start to appear during Pregnancy and as a Newborn.

Symptoms

The types of symptoms experienced, and their intensity, may vary among people with this disease. Your experience may be different from others. Consult your health care team for more information.

The following describes the symptom(s) associated with this disease along with the corresponding body system(s), description, synonyms, and frequency (Note: Not all possible symptoms may be listed):
Skin System Skin System

37 Symptoms

37 Symptoms

37 Symptoms

Body Systems

Symptoms related to this disease may affect different systems of the body. Use the 'Filter and Sort' function to learn more about which body system(s) are affected by this disease and their associated symptom(s).
Medical Term
Description and Synonyms
Frequency
Abnormal toenail morphology

An anomaly of the toenail.

Synonyms:Abnormality of the toenail; Abnormality of the toenails

Frequency
Uncommon
Very frequent
Very frequent
Always
Abnormality of the glabella

An abnormality of the glabella.

Synonyms:Abnormality of the area between the eyebrows; Glabellar abnormality

Frequency
Uncommon
Very frequent
Very frequent
Always
Agenesis of corpus callosum

Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.

Synonyms:Absence of corpus callosum; Absent corpus callosum; Agenesis of the corpus callosum; Callosal agenesis; Corpus callosum agenesis; Dysplastic or absent corpus callosum

Frequency
Uncommon
Very frequent
Very frequent
Always
Anterior pituitary hypoplasia

Underdevelopment of the anterior pituitary gland.

Synonyms:Underdeveloped pituitary gland

Frequency
Uncommon
Occasional
Occasional
Always
Aplasia/Hypoplasia of the tibia

Absence or underdevelopment of the tibia.

Synonyms:Absent/hypoplastic tibia; Absent/small shankbone; Absent/small shinbone; Absent/underdeveloped shankbone; Absent/underdeveloped shinbone; Aplastic/hypoplastic tibia

Frequency
Uncommon
Occasional
Occasional
Always
Bifid nasal tip

A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip.

Synonyms:Bifid tip of nose; Cleft nasal tip

Frequency
Uncommon
Very frequent
Very frequent
Always
Bifid nose

Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip.

Synonyms:Bifid nasal bridge; Indentation or clefting of the nose

Frequency
Uncommon
Very frequent
Very frequent
Always
Brachycephaly

An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.

Synonyms:Short and broad skull

Frequency
Uncommon
Very frequent
Very frequent
Always
Broad nasal tip

Increase in width of the nasal tip.

Synonyms:Broad nasal tip; Broad tip of nose; Broad, upturned nose; Increased breadth of nasal tip; Increased breadth of tip of nose; Increased width of nasal tip; Increased width of tip of nose; Nasal tip, broad; Nasal tip, wide; Wide tip of nose

Frequency
Uncommon
Very frequent
Very frequent
Always
Choroid plexus cyst

A cyst occurring within the choroid plexus within a cerebral ventricle.

Frequency
Uncommon
Frequent
Frequent
Always
Cryptorchidism

Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.

Synonyms:Cryptorchism; Undescended testes; Undescended testis

Frequency
Uncommon
Occasional
Occasional
Always
Dermoid cyst

A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts are\nslowly progressive and can grow to a size of 1 to 4 cm.

Frequency
Uncommon
Uncommon
Uncommon
Always
Encephalocele

A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.

Synonyms:Bifid skull; Cranium bifidum

Frequency
Uncommon
Very frequent
Very frequent
Always
Glaucoma

Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.

Frequency
Uncommon
Uncommon
Uncommon
Always
Global developmental delay

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.

Synonyms:Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; Lack of psychomotor development; Motor and developmental delay; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development

Frequency
Uncommon
Very frequent
Very frequent
Always
Hypertelorism

Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).

Synonyms:Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance

Frequency
Uncommon
Very frequent
Very frequent
Always
Hypopituitarism
This section is currently in development.
Frequency
Uncommon
Occasional
Occasional
Always
Hypoplasia of the olfactory bulb

Underdevelopment of the olfactory bulb.

Synonyms:Hypoplasia of olfactory bulb; Hypoplastic olfactory bulb

Frequency
Uncommon
Frequent
Frequent
Always
Intellectual disability

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.

Synonyms:Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation

Frequency
Uncommon
Very frequent
Very frequent
Always
Large fontanelles

In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms.

Synonyms:Enlarged fontanelles; Large fontanel; Large fontanelle; Large fontanels; Persistent wide fontanel; Wide fontanelles

Frequency
Uncommon
Very frequent
Very frequent
Always
Large sella turcica

An abnormal enlargement of the sella turcica.

Synonyms:Big sella turcica; Enlarged sella turcica; Hyperplasia of sella turcica; Prominent sella turcica

Frequency
Uncommon
Occasional
Occasional
Always
Median cleft lip

A type of cleft lip presenting as a midline (median) gap in the upper lip.

Synonyms:Central cleft upper lip; Midline cleft lip

Frequency
Uncommon
Frequent
Frequent
Always
Median cleft palate

Cleft palate of the midline of the palate.

Synonyms:Central cleft palate; Midline cleft palate

Frequency
Uncommon
Very frequent
Very frequent
Always
Meningocele

Protrusion of the meninges through a defect of the skull or vertebral column.

Frequency
Uncommon
Very frequent
Very frequent
Always
Midline central nervous system lipomas

Synonyms:Midline CNS lipomas

Frequency
Uncommon
Very frequent
Very frequent
Always
Myopia

An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.

Synonyms:Close sighted; Near sighted; Near sightedness; Nearsightedness

Frequency
Uncommon
Occasional
Occasional
Always
Patellar hypoplasia

Underdevelopment of the patella.

Synonyms:Hypoplastic patellae; Small kneecap; Small patella; Small patellae; Underdeveloped kneecap

Frequency
Uncommon
Occasional
Occasional
Always
Preaxial foot polydactyly

Duplication of all or part of the first ray.

Synonyms:Partial/complete duplication of the phalanges of the big toe; Polydactyly affecting the hallux; Preaxial hallucal polydactyly; Preaxial polydactyly of feet; Preaxial polydactyly of foot; Preaxial polydactyly of the feet; Preaxial polydactyly, feet

Frequency
Uncommon
Very frequent
Very frequent
Always
Ptosis

The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).

Synonyms:Blepharoptosis; Drooping upper eyelid; Eyelid ptosis

Frequency
Uncommon
Occasional
Occasional
Always
Retrocerebellar cyst
This section is currently in development.
Frequency
Uncommon
Occasional
Occasional
Always
Seizure

A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.

Synonyms:Epileptic seizure; Seizures

Frequency
Uncommon
Occasional
Occasional
Always
Talipes equinovarus

Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.

Synonyms:Club feet; Club foot; Clubbing of feet; Clubfeet; Clubfoot; Equinovarus; Foot, talipes equinovarus; Pes equinovarus; Pes equinus; Talipes varus

Frequency
Uncommon
Very frequent
Very frequent
Always
Telecanthus

Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.

Synonyms:Corners of eye widely separated; Dystopia canthorum; Increased distance between medial canthi; Increased intercanthal distance

Frequency
Uncommon
Very frequent
Very frequent
Always
Thick nasal alae

Increase in bulk of the ala nasi.

Synonyms:Ala nasi, thick; Thickening of the alae nasi

Frequency
Uncommon
Very frequent
Very frequent
Always
Upper airway obstruction

Increased resistance to the passage of air in the upper airway.

Synonyms:Upper airway obstruction

Frequency
Uncommon
Occasional
Occasional
Always
Ventriculomegaly

An increase in size of the ventricular system of the brain.

Synonyms:Cerebral ventricular dilatation; Dilated cerebral ventricle; Dilated cerebral ventricles; Dilated ventricles; Enlarged cerebral ventricles; Enlarged ventricles; Enlarged ventricular system; Large cerebral ventricles and cisternae; Ventricular dilatation

Frequency
Uncommon
Frequent
Frequent
Always
Wide mouth

Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).

Synonyms:Broad mouth; Large mouth; Large oral aperture; Macrostomia; Wide mouth

Frequency
Uncommon
Occasional
Occasional
Always

Diagnostic Journey

On average, it takes more than six years to receive an accurate rare disease diagnosis. Many primary care providers (PCPs) may not be familiar with rare diseases, and you may need to see multiple specialists to reach the correct diagnosis. However, advocating for yourself with your healthcare team may help speed your time to diagnosis. To combat common challenges, be prepared:

  • Find disease-specific information to discuss with your healthcare providers.
  • Ask for diagnostic tests.
  • Request referrals to specialists.

Knowing where to start your diagnostic journey and how to navigate the next steps are critical to speeding your time to diagnosis

Your Diagnostic Team

How can a diagnostic team help?

Establishing care with a dedicated primary care provider (PCP) is an important early step in your rare disease journey. A PCP can help improve care and shorten the time to diagnosis by providing referrals to the appropriate specialists. These specialists, with advanced training in different body systems or types of diseases, can offer the specialized diagnostic procedures you need.

Use this tool by Medicare to find a PCP in your area by inputting your location and keyword "Primary Care Provider."

A PCP that specializes in the care of children is called a pediatrician. Use this tool by the American Academy of Pediatrics to find a pediatrician in your area by inputting your location.
Diagnostic teams for Acromelic frontonasal dysostosis may include:
 

Multidisciplinary Care Centers

Is it time to find a multidisciplinary care center?

If you've visited your PCP, met with specialists, and undergone the recommended tests, but still do not have a confirmed diagnosis, it may be time to visit a multidisciplinary care center. Multidisciplinary care centers are usually teaching, university, or research hospitals that have teams of medical experts and specialists working together in the same location. This means a wide range of diagnostic tests and clinical knowledge are available at one facility, which can help increase communication and collaboration among your care team. The additional resources often available at multidisciplinary centers may help speed the time to diagnosis for rare diseases.



Multidisciplinary Care Centers

Is it time to find a multidisciplinary care center?

If you've visited your PCP, met with specialists, and undergone the recommended tests, but still do not have a confirmed diagnosis, it may be time to visit a multidisciplinary care center. Multidisciplinary care centers are usually teaching, university, or research hospitals that have teams of medical experts and specialists working together in the same location. This means a wide range of diagnostic tests and clinical knowledge are available at one facility, which can help increase communication and collaboration among your care team. The additional resources often available at multidisciplinary centers may help speed the time to diagnosis for rare diseases.




Rare Disease Experts

How can you find a rare disease expert?

If a diagnosis remains unknown despite extensive efforts by your PCP and specialists, it can be challenging to know what kind of expert you may need or where to find one. A rare disease expert is a care provider that has knowledge or training on specific disease(s), but there may only be a few experts in your state, region, or country. Rare disease experts may work at large research or teaching hospitals. In complex cases, coordinating with a network of experts can help your care provider find the right diagnosis. 
Contact a GARD Information Specialist for help finding an expert.

Rare Disease Experts

How can you find a rare disease expert?

If a diagnosis remains unknown despite extensive efforts by your PCP and specialists, it can be challenging to know what kind of expert you may need or where to find one. A rare disease expert is a care provider that has knowledge or training on specific disease(s), but there may only be a few experts in your state, region, or country. Rare disease experts may work at large research or teaching hospitals. In complex cases, coordinating with a network of experts can help your care provider find the right diagnosis. 
Contact a GARD Information Specialist for help finding an expert.

 

Find Your Community

How Can Patient Organizations Help?

Patient organizations can help patients and families connect. They build public awareness of the disease and are a driving force behind research to improve patients' lives. They may offer online and in-person resources to help people live well with their disease. Many collaborate with medical experts and researchers.

Services of patient organizations differ, but may include:

  • Ways to connect to others and share personal stories
  • Easy-to-read information
  • Up-to-date treatment and research information
  • Patient registries
  • Lists of specialists or specialty centers
  • Financial aid and travel resources

Please note: GARD provides organizations for informational purposes only and not as an endorsement of their services. Please contact an organization directly if you have questions about the information or resources it provides.

View GARD's criteria for including patient organizations, which can be found under the FAQs on our About page. Request an update or to have your organization added to GARD.

Patient Organizations

4 Organizations

Organization Name

Who They Serve

Helpful Links

Country

People With

Rare Diseases

Helpful Links
Country

United States

People With

Rare Diseases

Helpful Links
Country

United States

People With

Rare Diseases

Helpful Links
Country

United States

People With

Rare Diseases

Helpful Links
Country

United States

Participate in Research

Clinical studies are part of clinical research and play an important role in medical advances, including for rare diseases. Through clinical studies, researchers may ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases.

What Are Clinical Studies?

  1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
  2. Observational studies involve recording changes over time among a specific group of people in their natural settings.
Learn more about clinical trials from this U.S. Food & Drug Administration webpage.

Why Participate in Clinical Studies?

What if There Are No Available Clinical Studies?

Join the All of Us Research Program!

What Are Clinical Studies?

Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
  1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
  2. Observational studies involve recording changes over time among a specific group of people in their natural settings.
Learn more about clinical trials from this U.S. Food & Drug Administration webpage.
Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
  1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
  2. Observational studies involve recording changes over time among a specific group of people in their natural settings.
Learn more about clinical trials from this U.S. Food & Drug Administration webpage.

Why Participate in Clinical Studies?

People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.

To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.
Read More

What if There Are No Available Clinical Studies?

Join the All of Us Research Program!

ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
Contact a GARD Information Specialist if you need help finding more information on this rare disease or available clinical studies. Please note that GARD cannot enroll individuals in clinical studies.
Available toll-free Monday through Friday from 12 pm to 6 pm Eastern Time
(Except: Federal Holidays)
Use the contact form to send your questions to a GARD Information Specialist.

Please allow 2 to 10 business days for us to respond.
ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
Contact a GARD Information Specialist if you need help finding more information on this rare disease or available clinical studies. Please note that GARD cannot enroll individuals in clinical studies.
Available toll-free Monday through Friday from 12 pm to 6 pm Eastern Time
(Except: Federal Holidays)
Use the contact form to send your questions to a GARD Information Specialist.

Please allow 2 to 10 business days for us to respond.

Last Updated: December 2024