Rare Rheumatology News
Advertisement
Disease Profile
Schinzel Giedion 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.
<1 >
Age of onset
Antenatal
ICD-10
Q87.0
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)
Schinzel Giedion midface-retraction syndrome; SGS; Schinzel-Giedion syndrome
Categories
Congenital and Genetic Diseases; Kidney and Urinary Diseases; Musculoskeletal Diseases;
Summary
Schinzel Giedion
Symptoms
Features in children with SGS may include:
- a distinctive facial appearance including a prominent forehead; "flatness" of the middle part of the face (midface retraction); and a short upturned nose[3]
- hydronephrosis
- severe
developmental delay andintellectual disability [3][1] - skeletal (bone) malformations such as short limbs; valgus or varus foot deformity (the foot is twisted outward or inward, respectively); skull abnormalities; or broad ribs[3][1]
- genitourinary abnormalities such as undescended testicle(s); abnormally small penis; hypospadias; small uterus; underdeveloped inner and outer labia (folds) of the vagina; or displaced anus[3]
- heart defects such as septal defects (affecting the dividing walls of the heart); valve abnormalities; hypoplastic ventricles (underdeveloped bottom chambers of the heart) or patent ductus arteriosus[3]
-
seizures [3] - visual or hearing impairment[3]
- increased risk of
tumors [3] - excessive hair growth (hypertrichosis)[3]
- nail abnormalities[3]
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 | ||
Broad forehead |
Increased width of the forehead
Wide forehead
[ more ] |
0000337 |
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
[ more ] |
0000455 |
Frontal bossing | 0002007 | |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
Profound global developmental delay | 0012736 | |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
30%-79% of people have these symptoms | ||
Abnormal heart morphology |
Abnormality of the heart
Abnormally shaped heart
Heart defect
[ more ] |
0001627 |
Abnormality of the helix | 0011039 | |
Broad ribs |
Wide ribs
|
0000885 |
Facial hemangioma | 0000329 | |
Failure to thrive in infancy |
Faltering weight in infancy
Weight faltering in infancy
[ more ] |
0001531 |
Generalized hypertrichosis | 0004554 | |
Hydronephrosis | 0000126 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ] |
0000158 |
Narrow forehead |
Decreased width of the forehead
|
0000341 |
Shallow orbits |
Decreased depth of eye sockets
Shallow eye sockets
[ more ] |
0000586 |
Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
Short neck |
Decreased length of neck
|
0000470 |
Ventriculomegaly | 0002119 | |
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ] |
0000505 |
Wide anterior fontanel |
Wider-than-typical soft spot of skull
|
0000260 |
Wide mouth |
Broad mouth
Large mouth
[ more ] |
0000154 |
5%-29% of people have these symptoms | ||
Abnormal clavicle morphology |
Abnormal collarbone
|
0000889 |
Abnormal cochlea morphology | 0000375 | |
Abnormality of the gingiva |
Abnormality of the gums
|
0000168 |
Abnormality of the stapes | 0008628 | |
Aganglionic megacolon |
Enlarged colon lacking nerve cells
|
0002251 |
Alacrima |
Absence of tears in the eyes
Absent tear secretion
[ more ] |
0000522 |
Annular pancreas | 0001734 | |
Anteriorly placed anus | 0001545 | |
Arnold-Chiari type I malformation | 0007099 | |
Broad alveolar ridges | 0000187 | |
Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
Choanal stenosis |
Narrowing of the rear opening of the nasal cavity
|
0000452 |
Choroid plexus cyst | 0002190 | |
Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ] |
0000684 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Hypoplastic pubic bone | 0003173 | |
Infantile sensorineural hearing impairment | 0008610 | |
Kyphoscoliosis | 0002751 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Neural tube defect | 0045005 | |
Overlapping fingers | 0010557 | |
Overlapping toe |
Overlapping toes
Overriding toes
[ more ] |
0001845 |
Pulmonary hypoplasia |
Small lung
Underdeveloped lung
[ more ] |
0002089 |
Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ] |
0002098 |
Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] |
0000278 |
Sclerosis of skull base |
Dense bone of skull base
|
0002694 |
Short 1st metacarpal |
Shortened 1st long bone of hand
|
0010034 |
Conditions with similar signs and symptoms from Orphanet
|
---|
Other conditions with the distinctive midface retraction that could be considered in the differential diagnosis include fetal hydantoin, fetal warfarin syndromes, Zellweger syndrome, mucopolysaccharidosis, gangliosidosis, and rhizomelic chondrodysplasia punctata, as well as congenital hypothyroidism (see these terms).
Visit the Orphanet disease page for more information.
|
Organizations
Support 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.
Learn more
These 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
- MedlinePlus Genetics contains information on Schinzel Giedion syndrome. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Schinzel Giedion syndrome. Click on the link to view a sample search on this topic.
References
- Herenger Y et. al. Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations. Eur J Med Genet. September, 2015; 58(9):479-487.
- Marla J. F. O'Neill. SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME. OMIM. May 12, 2011; https://www.omim.org/entry/269150.
- Albert Schinzel. Schinzel-Giedion syndrome. Orphanet. April, 2014; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=798.
- SETBP1. Genetics Home Reference. January, 2012; https://ghr.nlm.nih.gov/gene/SETBP1.
Rare Rheumatology News