Temple-Baraitser syndrome

Title

Other Names:

TMBTS; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome

Categories:

Congenital and Genetic Diseases; Nervous System Diseases; Skin Diseases

Summary Summary

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

Orpha Number: 420561

Definition

Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.

Visit the Orphanet disease page for more resources.

Last updated: 9/1/2016

Symptoms 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.

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Medical Terms	Other Names	Learn More: HPO ID
30%-79% of people have these symptoms
Absent speech	Absent speech development Lack of language development Lack of speech No speech development No speech or language development Nonverbal [ more ]	0001344
Bilateral ptosis	Drooping of both upper eyelids	0001488
Broad thumb	Broad thumbs Wide/broad thumb [ more ]	0011304
Coarse facial features	Coarse facial appearance	0000280
Constipation		0002019
Delayed eruption of teeth	Delayed eruption Delayed teeth eruption Delayed tooth eruption Eruption, delayed Late eruption of teeth Late tooth eruption [ more ]	0000684
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
EEG abnormality		0002353
Epicanthus	Eye folds Prominent eye folds [ more ]	0000286
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Intellectual disability, severe	Early and severe mental retardation Mental retardation, severe Severe mental retardation [ more ]	0010864
Long eyelashes	Increased length of eyelashes Unusually long eyelashes [ more ]	0000527
Long hallux	Long big toe	0001847
Long philtrum		0000343
Macrotia	Large ears	0000400
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Myopathic facies		0002058
Seizure		0001250
Severe global developmental delay		0011344
Short stature	Decreased body height Small stature [ more ]	0004322
Thick eyebrow	Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent eyebrows Thick eyebrows [ more ]	0000574
Thick vermilion border	Full lips Increased volume of lip Plump lips Prominent lips Thick lips [ more ]	0012471
Wide mouth	Broad mouth Large mouth [ more ]	0000154
Wide nasal bridge	Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ more ]	0000431
Wide nose	Broad nose Increased breadth of nose Increased nasal breadth Increased nasal width Increased width of nose [ more ]	0000445
5%-29% of people have these symptoms
Absent nail of hallux	Absent big toe nail Absent nail of big toe [ more ]	0012555
Anteverted nares	Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ]	0000463
Delayed phalangeal epiphyseal ossification		0006016
Everted lower lip vermilion	Drooping lower lip Outward turned lower lip [ more ]	0000232
Everted upper lip vermilion	Outward turned upper lip	0010803
Full cheeks	Apple cheeks Big cheeks Increased size of cheeks Large cheeks [ more ]	0000293
Gingival overgrowth	Gum enlargement	0000212
High anterior hairline	High frontal hairline	0009890
High palate	Elevated palate Increased palatal height [ more ]	0000218
Hypoplastic thumbnail	Small thumbnail Underdeveloped thumbnail [ more ]	0012553
Low anterior hairline	Low frontal hairline Low-set frontal hairline [ more ]	0000294
Malar flattening	Zygomatic flattening	0000272
Open mouth	Gaped jawed appearance Gaped mouthed appearance Slack jawed appearance [ more ]	0000194
Short distal phalanx of finger	Short outermost finger bone	0009882
Short phalanx of the thumb	Short thumb bone	0009660
Tented upper lip vermilion		0010804
Thick nasal alae		0009928
Triangular shaped distal phalanx of the thumb	Triangular shaped outermost bone of the thumb	0009648
Percent of people who have these symptoms is not available through HPO
Adducted thumb	Inward turned thumb	0001181
Autosomal dominant inheritance		0000006
Autosomal recessive inheritance		0000007
Broad hallux	Broad big toe Wide big toe [ more ]	0010055
Downturned corners of mouth	Downturned corners of the mouth Downturned mouth [ more ]	0002714
Flat forehead	Flattened forehead	0004425
Global developmental delay		0001263
Infantile onset	Onset in first year of life Onset in infancy [ more ]	0003593
Intellectual disability, progressive	Mental retardation, progressive Progressive mental retardation [ more ]	0006887
Muscular hypotonia	Low or weak muscle tone	0001252
Pseudoepiphysis of the thumb		0009693

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 8/1/2020

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Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More 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

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.

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