Fontaine Progeroid syndrome

* This composite image of Fontaine Progeroid syndrome was created to help geneticists get a better analysis

What is Fontaine Progeroid syndrome?

Fontaine Progeroid syndrome is a rare genetic syndrome that is often diagnosed before birth.

One of the main symptoms of the syndrome is a severe growth retardation both before and after birth.

The life expectancy of many individuals with the condition is short, with many individuals not living past infancy or early childhood.

This syndrome is also known as:
Craniofacial Dysostosis, Hypertrichosis, Hypoplasia of Labia Majora, Dental and Eye Anomalies, Patent Ductus Arteriosus, and Normal Intelligence; GCM Syndrome; Gorlin-Chaudhry-Moss syndrome; GCMS syndrome; Progeroid syndrome, congenital, Petty type

What gene change causes Fontaine Progeroid syndrome?

Mutations in the SLC2SA24 are responsible for causing the syndrome. In most cases, the syndrome is caused by de novo mutations.

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 which occurs during the reproductive process.

What are the main symptoms of Fontaine Progeroid syndrome?

  • The main symptom of the syndrome is delayed growth, both pre and post-birth. This also leads to a failure to thrive, which in many cases can be very severe.
  • The absence of subcutaneous fat and premature aging are defining and serious features of the condition.
  • Facial features of the syndrome include a triangulate face and broad nasal bridge.
  • Genital abnormalities are common, as are hernias.

Possible clinical traits/features:
Umbilical hernia, Reduced number of teeth, Midface retrusion, Ptosis, Short distal phalanx of toe, Aplasia/Hypoplasia involving the nose, Astigmatism, Brachycephaly, Eyelid coloboma, Abnormality of the foot, Abnormality of the metacarpal bones, Short stature, Hypodontia, Hypoplastic labia majora, Hypoplasia of the maxilla, Underdeveloped supraorbital ridges, Short distal phalanx of finger, Hypertrichosis, Hypermetropia, Hypertelorism, Cognitive impairment, High palate, Malar flattening, Dental malocclusion, Craniosynostosis, Coronal craniosynostosis, Coarse hair, Downslanted palpebral fissures, Conductive hearing impairment, Microphthalmia, Microdontia, Abnormality of bone mineral density, Narrow palate, Low anterior hairline, Nystagmus, Upper eyelid coloboma, Sclerocornea, Autosomal recessive inheritance, Patent ductus arteriosus.

How is it diagnosed?

To find out if someone has a diagnosis of Fontaine Progeroid syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.

Share this syndrome

* This composite image of Fontaine Progeroid syndrome was created to help geneticists get a better analysis

Share this syndrome

Other childhood syndromes

More syndromes

Syndromes & Disorders

Weiss-Kruszka syndrome (WSKA)

It is a multiple congenital anomaly syndrome that has been recently identified. There are just 24 potential cases currently reported worldwide. It is also known as Weiss-Kruska syndrome. The gene responsible for the disorder is the ZNF462 gene.

Read more
Syndromes & Disorders

Yunis-Varon syndrome (YVS)

It is a rare genetic disease that affects multiple systems of the body. Its main symptoms affect the skeletal and nervous systems, as well as ectodermal tissue (hair and teeth). Since 1980 just 25 cases from 19 families have been diagnosed and recorded. This syndrome is also known as: Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia

Read more
Syndromes & Disorders

Xia-Gibbs syndrome (XIGIS)

It is a rare genetic syndrome associated mainly with intellectual disability. This syndrome is also known as: Mental Retardation, Autosomal Dominant 25; Mrd25 Changes in the AHDC1 gene are responsible for causing the syndrome. It is inherited in an autosomal dominant pattern, although all cases of the syndrome recorded so far have been the result of de novo or new mutations in the gene. 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. 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 which occurs during the reproductive process.

Read more