Rare Endocrinology News
Disease Profile
Shprintzen-Goldberg craniosynostosis syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
Infancy
ICD-10
Q87.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Craniosynostosis with arachnodactyly and abdominal hernias; Marfanoid disorder with craniosynostosis type 1; Marfanoid craniosynostosis syndrome;
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases
Summary
Orpha Number: 2462
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Arachnodactyly |
Spider fingers
Long slender fingers
[ more ] |
0001166 |
Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ] |
0000268 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
High, narrow palate |
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ] |
0002705 |
Hypertelorism |
Widely spaced eyes
Wide-set eyes
[ more ] |
0000316 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Little lower jaw
Small lower jaw
Small jaw
[ more ] |
0000347 | |
Muscular |
Low or weak muscle tone
|
0001252 |
Pes planus |
Flat feet
Flat foot
[ more ] |
0001763 |
Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] |
0000520 |
Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] |
0000278 |
Telecanthus |
Corners of eye widely separated
|
0000506 |
30%-79% of people have these symptoms | ||
Abnormal aortic valve morphology | 0001646 | |
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Communicating |
0001334 | |
0001363 | ||
Frontal bossing | 0002007 | |
High forehead | 0000348 | |
Hypoplasia of the maxilla |
Decreased size of upper jaw
Decreased size of maxilla
Small upper jaw
Small maxilla
Maxillary retrusion
Maxillary deficiency
Upper jaw retrusion
Upper jaw deficiency
Small upper jaw bones
[ more ] |
0000327 |
Inguinal hernia | 0000023 | |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
Mitral regurgitation | 0001653 | |
Mitral valve prolapse | 0001634 | |
Pectus carinatum |
Pigeon chest
|
0000768 |
Pectus excavatum |
Funnel chest
|
0000767 |
Drooping upper eyelid
|
0000508 | |
0002650 | ||
Squint
Cross-eyed
Squint eyes
[ more ] |
0000486 | |
Umbilical hernia | 0001537 | |
5%-29% of people have these symptoms | ||
Abnormal form of the vertebral bodies | 0003312 | |
Abnormality of the metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 |
Anteverted nares |
Nasal tip, upturned
Upturned nose
Upturned nasal tip
Upturned nostrils
[ more ] |
0000463 |
Aplasia/Hypoplasia of the abdominal wall musculature |
Absent/small abdominal wall muscles
Absent/underdeveloped abdominal wall muscles
[ more ] |
0010318 |
Apnea | 0002104 | |
Arnold-Chiari malformation | 0002308 | |
Conductive hearing impairment |
Conductive hearing loss
Conductive deafness
[ more ] |
0000405 |
Cryptorchidism |
Undescended testis
Undescended testes
[ more ] |
0000028 |
Elbow dislocation |
Dislocations of the elbows
Elbow dislocations
[ more ] |
0003042 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Gastroesophageal reflux |
Heartburn
Acid reflux disease
Acid reflux
[ more ] |
0002020 |
Genu valgum |
Knock knees
|
0002857 |
Hyperextensible skin |
Hyperelastic skin
Stretchable skin
Skin hyperelasticity
[ more ] |
0000974 |
Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 |
Decreased circumference of cranium
Abnormally small skull
Small head circumference
Reduced head circumference
Decreased size of skull
[ more ] |
0000252 | |
Missing ribs |
Absent ribs
Decreased rib number
[ more ] |
0000921 |
Myopia |
Nearsightedness
Near sightedness
Near sighted
Close sighted
[ more ] |
0000545 |
Narrow chest |
Low chest circumference
Narrow shoulders
[ more ] |
0000774 |
Osteopenia | 0000938 | |
Protruding ear |
Prominent ear
Prominent ears
[ more ] |
0000411 |
Ventriculomegaly | 0002119 | |
1%-4% of people have these symptoms | ||
Abdominal wall muscle weakness | 0009023 | |
Aortic aneurysm |
Bulge in wall of large artery that carries blood away from heart
|
DiagnosisMaking a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional. Testing Resources
OrganizationsSupport and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Organizations Supporting this Disease
Learn moreThese resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Where to Start
In-Depth Information
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