Rare Endocrinology News
Disease Profile
Brachioskeletogenital syndrome
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
Q87.8
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)
BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome;
Categories
Congenital and Genetic Diseases; Kidney and Urinary Diseases; Nervous System Diseases
Summary
Orpha Number: 1299
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 | ||
Abnormality of dentin |
Abnormal dentin
|
0010299 |
Abnormality of the sella turcica | 0002679 | |
Abnormality of the shape of the midface | 0430026 | |
Abnormality of the vertebral spinous processes | 0008516 | |
Advanced pneumatization of the mastoid process | 0010724 | |
Attached earlobe | 0009907 | |
Bifid uvula | 0000193 | |
Blepharochalasis | 0010749 | |
Brachycephaly |
Short and broad skull
|
0000248 |
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 |
Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ] |
0000670 |
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 |
Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ] |
0002714 |
Flat face |
Flat facial shape
|
0012368 |
High forehead | 0000348 | |
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 |
Hypoplasia of the maxilla |
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ] |
0000327 |
IQ between 34 and 49
|
0002342 | |
Large earlobe |
Fleshy earlobe
Fleshy earlobes
Prominent ear lobes
prominent ear lobules
[ more ] |
0009748 |
Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ] |
0000303 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Micropenis |
Short penis
Small penis
[ more ] |
0000054 |
Pectus excavatum |
Funnel chest
|
0000767 |
Penoscrotal hypospadias | 0000808 | |
Periorbital wrinkles |
Wrinkles around the eyes
|
0000607 |
Pointed chin |
Pointy chin
Small pointed chin
Witch's chin
[ more ] |
0000307 |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] |
0000520 |
Rootless teeth |
Absence of tooth root
Missing tooth root
Teeth without roots
[ more ] |
0011072 |
Short neck |
Decreased length of neck
|
0000470 |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Submucous cleft hard palate | 0000176 | |
Synophrys |
Monobrow
Unibrow
[ more ] |
0000664 |
Telecanthus |
Corners of eye widely separated
|
0000506 |
Thickened calvaria |
Increased thickness of skull cap
Thickened skull cap
[ more ] |
0002684 |
Unilateral |
One sided cleft palate
|
0100334 |
30%-79% of people have these symptoms | ||
0001363 | ||
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Mixed hearing impairment |
Hearing loss, mixed
Mixed hearing loss
[ more ] |
0000410 |
Premature loss of teeth |
Early tooth loss
Loss of teeth
Premature teeth loss
Premature tooth loss
[ more ] |
0006480 |
Short philtrum | 0000322 | |
Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ] |
0000233 |
Thoracolumbar kyphoscoliosis | 0003423 | |
5%-29% of people have these symptoms | ||
Eyelid coloboma |
Cleft eyelid
Notched eyelid
[ more ] |
0000625 |
0001250 | ||
Ureteral stenosis |
Narrowing of the ureter
|
0000071 |
1%-4% of people have these symptoms | ||
Absent external genitalia | 0000042 | |
Absent nipple |
Absent nipples
|
0002561 |
Amelia involving the lower limbs | 0009818 | |
Anal stenosis |
Narrowing of anal opening
|
0002025 |
Anteriorly placed anus | 0001545 | |
Bladder exstrophy | 0002836 | |
Short fingers or toes
|
0001156 | |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
Learn moreThese 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
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