Rare Infectious Disease News

Disease Profile

Temple-Baraitser syndrome

Prevalence
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.

Unknown

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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

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

Categories

Congenital and Genetic Diseases; Nervous System Diseases; Skin Diseases

Summary

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

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.

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
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
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 ]

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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