• Scott Bryant Graham Syndrome

Disease at a Glance

Summary
Craniodigital syndrome - intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.
Estimated Number of People with this Disease
In the U.S. there may be between

1 to 300

What Information Does GARD Have For This Disease?

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

*Data may be currently unavailable to GARD at this time.
Categories
Birth Defect;
Neurological Disease
When do symptoms of this disease begin?
The most common ages for symptoms of a disease to begin is called age of onset. Age of onset can vary for different diseases and may be used by a doctor to determine the diagnosis. For some diseases, symptoms may begin in a single age range or several age ranges. For other diseases, symptoms may begin any time during a person's life.
Prenatal
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
The common ages for symptoms to begin in this disease are shown above by the colored icon(s).
This information comes from Orphanet

Symptoms

These symptoms may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom.
This disease might cause these symptoms:
Skin System

14 Symptoms

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Tile View
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Skin System

The skin or integumentary system is made up of skin, hair, nails, sweat glands, and oil glands. Common symptoms of problems in the skin system include redness, swelling, burning, itching, rashes, and hives. Skin diseases are often diagnosed and treated by dermatologists. Other specialists may also be involved including rheumatologists, allergists, and infectious disease doctors.
Medical Term

Abnormal dermatoglyphics

Frequency: Very frequent
Description

An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles.

An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles.

Synonym

Dermatoglyphic abnormalities

Dermatoglyphic abnormalities

14 Symptoms
This information comes from the Human Phenotype Ontology (HPO)

Causes

This section is currently in development. 

Inheritance

All individuals inherit two copies of most genes. The number of copies of a gene that need to have a disease-causing variant affects the way a disease is inherited. This disease is inherited in the following pattern(s):

Questions:

X-linked recessive inheritance
X-linked means the gene is located on the X chromosome, one of two sex chromosomes. Genes, like chromosomes, usually come in pairs. Recessive means that when there are two copies of the responsible gene, both copies must have a disease-causing change (pathogenic variant) in order for a person to have the disease. Mutation is an older term that is still sometimes used to mean pathogenic variant.

Because women have two X chromosomes, a pathogenic variant for an X-lined recessive disease generally needs to occur in both copies of the gene to cause the disease. Because men have one X chromosome and thus only one copy of the gene, a pathogenic variant in their one copy is enough to cause the disease. Women who have a pathogenic variant in one copy of the gene, are called carriers. In rare cases, women carriers may experience mild to moderate symptoms but most have no symptoms.

A woman who carries one X-linked gene variant has a 50% (1 in 2) chance of having a son with the disease and a 50% (1 in 2) chance of having a daughter who is a carrier. A man with an X-linked recessive disease cannot pass on the disease to his sons, but all of his daughters will be carriers. If a male child is the first person in a family with the disease, the pathogenic variant may have been inherited from the mother or may have occurred by chance for the first time in the child (de novo).X-linked means the gene is located on the X chromosome, one of two sex chromosomes. Genes, like chromosomes, usually come in pairs. Recessive means that when there are two copies of the responsible gene, both copies must have a disease-causing change (pathogenic variant) in order for a person to have the disease. Mutation is an older term that is still sometimes used to mean pathogenic variant.

Because women have two X chromosomes, a pathogenic variant for an X-lined recessive disease generally needs to occur in both copies of the gene to cause the disease. Because men have one X chromosome and thus only one copy of the gene, a pathogenic variant in their one copy is enough to cause the disease. Women who have a pathogenic variant in one copy of the gene, are called carriers. In rare cases, women carriers may experience mild to moderate symptoms but most have no symptoms.

A woman who carries one X-linked gene variant has a 50% (1 in 2) chance of having a son with the disease and a 50% (1 in 2) chance of having a daughter who is a carrier. A man with an X-linked recessive disease cannot pass on the disease to his sons, but all of his daughters will be carriers. If a male child is the first person in a family with the disease, the pathogenic variant may have been inherited from the mother or may have occurred by chance for the first time in the child (de novo).
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Next Steps

Talking with the Medical Team

Good communication between the patient, family, and medical team can lead to an accurate diagnosis. In addition, health care decisions can be made together which improves the patient’s well-being and quality of life.

Describing Symptoms

Describe details about the symptoms. Because there may be many different causes for a single symptom, it is best not to make a conclusion about the diagnosis. The detailed descriptions help the medical provider determine the correct diagnosis.

To help describe a symptom:

  • Use a smartphone or a notebook to record each symptom before the appointment
  • Describe each symptom by answering the following questions:
    • When did the symptom start?
    • How often does it happen?
    • Does anything make it better or worse?
  • Tell the medical team whether any symptoms affect daily activities

Preparing for the First Visit

Working with a medical team to find a diagnosis can be a long process that will require more than one appointment. Make better health decisions by being prepared for the first visit with each member of the medical team.

    Make informed decisions about health care: 
    • Prepare a list of questions and concerns before the appointment
    • List the most important questions first, not all questions may be answered in the first visit
    • Ask questions about symptoms, possible diagnoses, tests, and treatment options
    For future appointments:
    • Discuss what was not addressed at the last visit
    • Discuss changes in the quality of life for the patient, family, and caregivers
    • Discuss health goals and other issues in the patient’s and family’s life that may affect the health care decisions
    Take notes during the appointments to help remember what was discussed.

    Next: Diagnosis & Treatment

    Last Updated: Nov. 8, 2021