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Disease Profile
Multiple pterygium syndrome Escobar type
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
Antenatal
ICD-10
Q79.8
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)
Escobar syndrome; Multiple pterygium syndrome nonlethal type; Pterygium syndrome;
Categories
Congenital and Genetic Diseases
Summary
Multiple pterygium
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 | ||
Antecubital pterygium | 0009760 | |
Axillary pterygium | 0001060 | |
Finger |
0006101 | |
Limitation of joint mobility |
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ] |
0001376 |
Multiple pterygia | 0001040 | |
Pectus excavatum |
Funnel chest
|
0000767 |
Popliteal pterygium | 0009756 | |
0002650 | ||
Symphalangism affecting the phalanges of the hand |
Fused finger bones of the hand
|
0009773 |
Webbed neck |
Neck webbing
|
0000465 |
30%-79% of people have these symptoms | ||
Abnormal foot morphology |
Abnormal feet structure
Abnormality of the feet
Abnormality of the foot
Foot deformities
Foot deformity
[ more ] |
0001760 |
Aplasia/Hypoplasia of the abdominal wall musculature |
Absent/small abdominal wall muscles
Absent/underdeveloped abdominal wall muscles
[ more ] |
0010318 |
Aplasia/Hypoplasia of the skin |
Absent/small skin
Absent/underdeveloped skin
[ more ] |
0008065 |
Arthrogryposis multiplex congenita | 0002804 | |
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ] |
0000324 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Decreased activity of gonads
|
0000135 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Long face |
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ] |
0000276 |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
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 | |
Neonatal respiratory distress |
Infantile respiratory distress
Newborn respiratory distress
Respiratory distress, neonatal
[ more ] |
0002643 |
Pointed chin |
Pointy chin
Small pointed chin
Witch's chin
[ more ] |
0000307 |
Ptosis |
Drooping upper eyelid
|
0000508 |
Short stature |
Decreased body height
Small stature
[ more ] |
0004322 |
Telecanthus |
Corners of eye widely separated
|
0000506 |
Umbilical hernia | 0001537 | |
Vertebral segmentation defect | 0003422 | |
5%-29% of people have these symptoms | ||
Abnormal aortic valve morphology | 0001646 | |
Abnormality of the tongue |
Abnormal tongue
Tongue abnormality
[ more ] |
0000157 |
Absence of labia majora |
Absent vaginal lips
|
0008729 |
Aortic aneurysm |
Bulge in wall of large artery that carries blood away from heart
|
0004942 |
Cleft palate |
Cleft roof of mouth
|
0000175 |
Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] |
0100543 |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ] |
0000405 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ] |
0000268 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ] |
0001288 |
Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
Inguinal hernia | 0000023 | |
Long philtrum | 0000343 | |
Low posterior hairline |
Low hairline at back of neck
|
0002162 |
Morphological abnormality of the gastrointestinal tract |
Abnormal shape of the digestive system
|
0012718 |
Nevus |
Mole
|
0003764 |
Pulmonary hypoplasia |
Small lung
Underdeveloped lung
[ more ] |
0002089 |
Rib fusion |
Fused ribs
|
0000902 |
Scrotal hypoplasia |
Smaller than typical growth of scrotum
|
Cause Most cases of multiple pterygium
Mutations in other genes have been identified that cause multiple pterygium syndrome, Escobar type. Some people with this condition do not have an identified mutation in any of the known associated genes associated with this condition. The cause of the condition in these individuals is unknown.[2] Diagnosis Multiple pterygium
Testing Resources
Treatment There is currently no cure for multiple pterygium
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. Where to Start
In-Depth Information
References
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