Rare Oncology News

Disease Profile

Teebi Shaltout 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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

ageofonset-infancy.svg

ICD-10

-

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

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

rnn-autosomalrecessive.svg

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.

no.svg

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

no.svg

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.

no.svg

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.

no.svg

Not applicable

no.svg

Other names (AKA)

Craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage

Categories

Congenital and Genetic Diseases

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
5%-29% of people have these symptoms
Aortic valve stenosis
Narrowing of aortic valve
0001650
Cleft palate
Cleft roof of mouth
0000175
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Narrow mouth
Small mouth
0000160
Turricephaly
Tall shaped skull
Tower skull shape

[ more ]

0000262
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
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
Camptodactyly
Permanent flexion of the finger or toe
0012385
Caudal appendage
Human tail
0002825
High, narrow palate
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth

[ more ]

0002705
Highly arched eyebrow
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows

[ more ]

0002553
Horseshoe kidney
Horseshoe kidneys
0000085
Hydronephrosis
0000126
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Hypoplastic helices
0008589
Low anterior hairline
Low frontal hairline
Low-set frontal hairline

[ more ]

0000294
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Metatarsus adductus
Front half of foot turns inward
0001840
Microphthalmia
Abnormally small eyeball
0000568
Narrow forehead
Decreased width of the forehead
0000341
Oligodontia
Failure of development of more than six teeth
0000677
Pectus carinatum
Pigeon chest
0000768
Pectus excavatum
Funnel chest
0000767
Prominent forehead
Pronounced forehead
Protruding forehead

[ more ]

0011220
Prominent palatine ridges
0010291
Ptosis
Drooping upper eyelid
0000508
Rocker bottom foot
Rocker bottom feet
Rocker-bottom feet
Rockerbottom feet

[ more ]

0001838
Scaphocephaly
0030799
Short stature
Decreased body height
Small stature

[ more ]

0004322
Single transverse palmar crease
0000954
Slow-growing hair
Slow growing hair
Slow rate of hair growth
Slow speed of hair growth

[ more ]

0002217
Small earlobe
Small earlobes
0000385
Smooth philtrum
0000319
Sparse hair
0008070
Syndactyly
Webbed fingers or toes
0001159
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot

[ more ]

0001762
Telecanthus
Corners of eye widely separated
0000506
Ulnar deviation of the hand
0009487
Underdeveloped nasal alae
Underdeveloped tissue around nostril
0000430
Ureteral stenosis
Narrowing of the ureter
0000071
Wide intermamillary distance
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples

[ more ]

0006610
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

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. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Teebi Shaltout syndrome. Click on the link to view a sample search on this topic.