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Disease Profile
Temple 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.
#N/A
Age of onset
#N/A
ICD-10
#N/A
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
Categories
Congenital and Genetic Diseases; Endocrine Diseases; Nervous System Diseases
Summary
Orpha Number: 254516
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 | ||
Infantile muscular |
Decreased muscle tone in infant
|
0008947 |
Motor delay | 0001270 | |
Postnatal growth retardation |
Growth delay as children
|
0008897 |
Precocious puberty |
Early onset of puberty
Early puberty
[ more ] |
0000826 |
Short foot |
Short feet
Small feet
[ more ] |
0001773 |
Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ] |
0001518 |
Small hand |
Disproportionately small hands
|
0200055 |
30%-79% of people have these symptoms | ||
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] |
0000750 |
Feeding difficulties in infancy | 0008872 | |
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] |
0001256 | |
Nasogastric tube feeding | 0040288 | |
Obesity |
Having too much body fat
|
0001513 |
Premature birth |
Premature delivery of affected infants
Preterm delivery
[ more ] |
0001622 |
Relative macrocephaly |
Relatively large head
|
0004482 |
Decreased body height
Small stature
[ more ] |
0004322 | |
5%-29% of people have these symptoms | ||
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
Bifid uvula | 0000193 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Decreased testicular size |
Small testes
Small testis
[ more ] |
0008734 |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 |
Hypertriglyceridemia |
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides
[ more ] |
0002155 |
Maturity-onset diabetes of the young | 0004904 | |
Polyphagia |
Voracious appetite
|
0002591 |
Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
0002650 | ||
Type II |
Noninsulin-dependent diabetes
Type 2 diabetes
Type II diabetes
[ more ] |
0005978 |
1%-4% of people have these symptoms | ||
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Few cafe-au-lait spots | 0007429 | |
Frontal bossing | 0002007 | |
Growth |
0000824 | |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Pointed chin |
Pointy chin
Small pointed chin
Witch's chin
[ more ] |
0000307 |
Recurrent |
Recurrent low blood sugar levels
|
0001988 |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Clinodactyly |
Permanent curving of the finger
|
0030084 |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
Flexion |
Flexed joint that cannot be straightened
|
0001371 |
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Hypercholesterolemia |
Elevated serum cholesterol
Elevated total cholesterol
Increased total cholesterol
[ more ] |
0003124 |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Joint hypermobility |
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ] |
0001382 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Overweight | 0025502 | |
Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ] |
0011220 |
Recurrent otitis media |
Recurrent middle ear infection
|
0000403 |
Short philtrum | 0000322 | |
Sporadic |
No previous family history
|
0003745 |
Truncal obesity | 0001956 | |
Wide nose |
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ] |
0000445 |
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.
Organizations Supporting this Disease
-
Chromosome Disorder Outreach (CDO)
PO Box 724
Boca Raton, FL 33429
Telephone: +1-561-395-4252
E-mail: https://chromodisorder.org/contact/
Website: https://chromodisorder.org/ -
The MAGIC Foundation
4200 Cantera Dr. #106
Warrenville, IL 60555
Toll-free: 800-362-4423
Telephone: 630-836-8200
Fax: 630-836-8181
E-mail: [email protected]
Website: https://www.magicfoundation.org/ -
Unique – Rare Chromosome Disorder Support Group
G1, The Stables
Station Road West
Surrey
RH8 9EE
United Kingdom
Telephone: +44 (0)1883 723356
E-mail: [email protected]
Website: https://www.rarechromo.org/
Social Networking Websites
- Visit the following Facebook groups related to Temple syndrome:
Temple Syndrome Parent Support The MAGIC Foundation
SGA/Small for Gestational Age Parent Support-The MAGIC Foundation
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.
In-Depth Information
- 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.