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Disease Profile

Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia

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

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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)

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
Autosomal dominant inheritance
0000006
Bifid scrotum
Cleft of scrotum
0000048
Blepharophimosis
Narrow opening between the eyelids
0000581
Brachydactyly
Short fingers or toes
0001156
Broad thumb
Broad thumbs
Wide/broad thumb

[ more ]

0011304
Clitoral hypoplasia
Small clitoris
Underdeveloped clit

[ more ]

0000060
Craniosynostosis
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 developmental delay
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 contracture
0006380
Mesomelic leg shortening
0004987
Metatarsus adductus
Front half of foot turns inward
0001840
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Micrognathia
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 polydactyly
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
Ptosis
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 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 Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia. Click on the link to view a sample search on this topic.

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