National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Temple syndrome

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 254516

Definition
Temple syndrome is a rare, genetic disease characterized by pre-and postnatal growth delay, feeding difficulties, muscular hypotonia, motor developmental delay (with or without mild intellectual disability) and mild facial dysmorphism, such as broad, prominent forehead, short nose with flat nasal root and wide tip, downturned corners of mouth, high-arched palate and micrognathia. Additonal features include childhood-onset central obesity, premature puberty and variable bone abnormalities (e.g. small hands and feet, dolichospondyly, slender long bones and craniofacial disproportion).

Visit the Orphanet disease page for more resources.
Last updated: 8/1/2018

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.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Infantile muscular hypotonia
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
Intellectual disability, mild
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
Short stature
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
Scoliosis 0002650
Type II diabetes mellitus
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 hormone deficiency 0000824
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Pointed chin
Pointy chin
Small pointed chin
Witch's chin
[ more ] 		0000307
Recurrent hypoglycemia
Recurrent low blood sugar levels
0001988
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Clinodactyly
Permanent curving of the finger
0030084
Feeding difficulties
Feeding problems
Poor feeding
[ more ] 		0011968
Flexion contracture
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
Micrognathia
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
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Last updated: 7/1/2020

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.

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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.

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