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Disease Profile
Brachycephalofrontonasal dysplasia
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.
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Age of onset
Neonatal
ICD-10
Q87.0
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
Other names (AKA)
Hypertelorism, Teebi type; Teebi hypertelorism syndrome; Craniofrontonasal dysplasia, Teebi type
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
Orpha Number: 1519
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 | ||
Highly arched eyebrow |
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows
[ more ] |
0002553 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Long philtrum | 0000343 | |
Prominent nasal bridge |
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ] |
0000426 |
Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ] |
0000574 |
Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ] |
0000233 |
30%-79% of people have these symptoms | ||
Abnormality of the helix | 0011039 | |
Short fingers or toes
|
0001156 | |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ] |
0000232 |
Finger |
0006101 | |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Preauricular pit |
Pit in front of the ear
|
0004467 |
Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ] |
0011220 |
Drooping upper eyelid
|
0000508 | |
Round face |
Circular face
Round facial appearance
Round facial shape
[ more ] |
0000311 |
Shawl scrotum |
Scrotum surrounds penis
|
0000049 |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
Short toe |
Short toes
Stubby toes
[ more ] |
0001831 |
Umbilical hernia | 0001537 | |
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 |
Widow's peak |
Hairline peak
Hairline point
Pointed hairline at front of head
V-shaped frontal hairline
[ more ] |
0000349 |
5%-29% of people have these symptoms | ||
Advanced eruption of teeth |
Early eruption of teeth
|
0006288 |
Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ] |
0011675 |
Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] |
0001631 |
Brachycephaly |
Short and broad skull
|
0000248 |
Dimple chin |
Chin butt
Chin dent
Chin dimple
Chin skin dimple
Indentation of chin
[ more ] |
0010751 |
Ectopic kidney |
Abnormal kidney location
Displaced kidney
[ more ] |
0000086 |
Female pseudohermaphroditism | 0010458 | |
Omphalocele | 0001539 | |
Oral cleft |
Cleft of the mouth
|
0000202 |
Patent ductus arteriosus | 0001643 | |
Pectus excavatum |
Funnel chest
|
0000767 |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] |
0000520 |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Tetralogy of Fallot | 0001636 | |
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 | ||
Anxiety |
Excessive, persistent worry and fear
|
0000739 |
Autistic behavior | 0000729 | |
0000006 | ||
Bicornuate uterus |
Heart shaped uterus
Heart-shaped uterus
[ more ] |
0000813 |
Broad palm |
Broad hand
Broad hands
Wide palm
[ more ] |
0001169 |
0001363 | ||
Dental crowding |
Crowded teeth
Dental overcrowding
Overcrowding of teeth
[ more ] |
0000678 |
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 |
Frontal bossing | 0002007 | |
Natal tooth |
Born with teeth
Teeth present at birth
[ more ] |
0000695 |
Decreased body height
Small stature
[ more ] |
0004322 | |
Small hand |
Disproportionately small hands
|
0200055 |
Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |