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Disease Profile
Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
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.
#N/A
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.
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)
Brachyphalangy, polydactyly and absent tibiae
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
|
---|---|---|
Percent of people who have these symptoms is not available through HPO | ||
Absent tibia |
Absent shankbone
Absent shinbone
[ more ] |
0009556 |
Antecubital pterygium | 0009760 | |
Aplasia cutis congenita of scalp | 0007385 | |
Aplasia/hypoplasia of the femur |
Absent/small thighbone
Absent/underdeveloped thighbone
[ more ] |
0005613 |
Aplasia/Hypoplasia of the hallux |
Absent/small big toe
Absent/underdeveloped big toe
[ more ] |
0008362 |
Aplasia/hypoplasia of the humerus |
Absent/small long bone in upper arm
Absent/underdeveloped long bone in upper arm
[ more ] |
0006507 |
Aplasia/Hypoplasia of the nails |
Absent/small nails
Absent/underdeveloped nails
[ more ] |
0008386 |
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 |
0000006 | ||
Bifid scrotum |
Cleft of scrotum
|
0000048 |
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
Short fingers or toes
|
0001156 | |
Broad thumb |
Broad thumbs
Wide/broad thumb
[ more ] |
0011304 |
Clitoral hypoplasia |
Small clitoris
Underdeveloped clit
[ more ] |
0000060 |
0001363 | ||
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Cupped ear |
Cup-shaped ears
Simple, cup-shaped ears
[ more ] |
0000378 |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
Dislocated radial head | 0003083 | |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Fibular hypoplasia |
Short calf bone
|
0003038 |
Flared iliac wings | 0002869 | |
Global |
0001263 | |
Hand monodactyly | 0004058 | |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ] |
0002827 |
Horseshoe kidney |
Horseshoe kidneys
|
0000085 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Hypoplasia of the radius |
Underdeveloped outer large forearm bone
|
0002984 |
Hypoplasia of the ulna |
Underdeveloped inner large forearm bone
|
0003022 |
Hypoplastic iliac wing | 0002866 | |
Hypoplastic ischia | 0003175 | |
Hypoplastic pubic rami | 0008830 | |
Hypospadias | 0000047 | |
Inguinal hernia | 0000023 | |
Knee flexion |
0006380 | |
Mesomelic leg shortening | 0004987 | |
Metatarsus adductus |
Front half of foot turns inward
|
0001840 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Micropenis |
Short penis
Small penis
[ more ] |
0000054 |
Microphthalmia |
Abnormally small eyeball
|
0000568 |
Overfolded helix |
Overfolded ears
|
0000396 |
Parietal foramina | 0002697 | |
Patellar hypoplasia |
Small kneecap
Underdeveloped kneecap
[ more ] |
0003065 |
Pectus excavatum |
Funnel chest
|
0000767 |
Popliteal pterygium | 0009756 | |
Postaxial hand |
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ] |
0001162 |
Preauricular skin tag | 0000384 | |
Preaxial foot polydactyly | 0001841 | |
Proximal placement of thumb |
Attachment of thumb close to wrist
|
0009623 |
Drooping upper eyelid
|
0000508 | |
Shallow acetabular fossae | 0003182 | |
Short clavicles |
Short collarbone
|
0000894 |
Short metacarpal |
Shortened long bone of hand
|
0010049 |
Short metatarsal |
Short long bone of foot
|
0010743 |
Short neck |
Decreased length of neck
|
0000470 |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
Short phalanx of finger |
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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