Rare Hematology News

Disease Profile

Gollop Coates 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.

Unknown

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

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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)

Bifurcation of distal humerus with oligoectro-syndactyly

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
30%-79% of people have these symptoms
Broad forehead
Increased width of the forehead
Wide forehead

[ more ]

0000337
Highly arched eyebrow
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows

[ more ]

0002553
Long philtrum
0000343
Sparse and thin eyebrow
Thin, sparse eyebrows
0000535
Percent of people who have these symptoms is not available through HPO
Aortic regurgitation
0001659
Aortic valve stenosis
Narrowing of aortic valve
0001650
Arthralgia
Joint pain
0002829
Arthropathy
Disease of the joints
0003040
Autosomal recessive inheritance
0000007
Barrel-shaped chest
Barrel chest
0001552
Bilateral single transverse palmar creases
0007598
Brachydactyly
Short fingers or toes
0001156
Camptodactyly of finger
Permanent flexion of the finger
0100490
Coronal cleft vertebrae
0003417
Cubitus valgus
Outward turned elbows
0002967
Decreased hip abduction
0003184
Delayed eruption of teeth
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption

[ more ]

0000684
Delayed gross motor development
Delayed motor skills
0002194
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development

[ more ]

0002750
Deviation of the 5th finger
Displaced little finger
Displaced pinkie finger
Displaced pinky finger

[ more ]

0009179
Elbow dislocation
Dislocations of the elbows
Elbow dislocations

[ more ]

0003042
Fixed elbow flexion
0006471
Flattened epiphysis
Flat end part of bone
0003071
Generalized bone demineralization
0006462
Genu valgum
Knock knees
0002857
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Hypoplasia of the capital femoral epiphysis
Small innermost thighbone end part
Underdevelopment of the innermost thighbone end part

[ more ]

0003090
Hypoplasia of the ulna
Underdeveloped inner large forearm bone
0003022
Intervertebral space narrowing
0002945
Irregular vertebral endplates
0003301
Knee dislocation
0004976
Kyphoscoliosis
0002751
Limited hip extension
Restricted hip extension
0003093
Lumbar hyperlordosis
Excessive inward curvature of lower spine
0002938
Microdontia
Decreased width of tooth
0000691
Microtia
Small ears
Underdeveloped ears

[ more ]

0008551
Mitral regurgitation
0001653
Mitral stenosis
0001718
Multiple carpal ossification centers
0006067
Narrow vertebral interpedicular distance
0008450
Pes planus
Flat feet
Flat foot

[ more ]

0001763
Pulmonary arterial hypertension
Increased blood pressure in blood vessels of lungs
0002092
Pulmonic stenosis
Narrowing of pulmonic valve
0001642
Rhizomelia
Disproportionately short upper portion of limb
0008905
Shield chest
0000914
Short distal phalanx of finger
Short outermost finger bone
0009882
Short femoral neck
Short neck of thighbone
0100864
Short metacarpal
Shortened long bone of hand
0010049
Short neck
Decreased length of neck
0000470
Shoulder dislocation
0003834
Small epiphyses
Small end part of bone
0010585
Spondyloepiphyseal dysplasia
0002655
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot

[ more ]

0001762
Tibial bowing
Bowed shankbone
Bowed shinbone

[ more ]

0002982
Tricuspid regurgitation
0005180
Tricuspid stenosis
0010446
Ulnar bowing
Curving of inner forearm bone
0003031
Ventricular hypertrophy
0001714
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
Waddling gait
'Waddling' gait
Waddling walk

[ more ]

0002515
Wide intermamillary distance
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples

[ more ]

0006610

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 Gollop Coates syndrome. Click on the link to view a sample search on this topic.

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