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Disease Profile

Popliteal pterygium syndrome, Bartsocas-Papas type

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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Antenatal

ICD-10

Q87.2

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)

Bartsocas Papas syndrome; BPS; Pterygium popliteal lethal type;

Categories

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases;

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 1234

Definition
Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.

Visit the Orphanet disease page for more resources.

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
Alopecia totalis
0007418
Ambiguous genitalia
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia

[ more ]

0000062
Ankyloblepharon
Adhesion of eyelids
Eyelids stuck together

[ more ]

0009755
Aplasia/Hypoplasia of the distal phalanges of the toes
Absent/small outermost bones of toe
Absent/underdeveloped outermost bones of toe

[ more ]

0010185
Aplasia/Hypoplasia of the eyebrow
Absence of eyebrow
Lack of eyebrow
Missing eyebrow

[ more ]

0100840
Cleft palate
Cleft roof of mouth
0000175
Finger syndactyly
0006101
Hypoplastic male external genitalia
Small male external genitalia
Underdeveloped male genitalia

[ more ]

0000050
Hypoplastic toenails
Underdeveloped toenails
0001800
Median cleft lip
Central cleft upper lip
0000161
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Popliteal pterygium
0009756
Sparse or absent eyelashes
0200102
Synostosis of joints
Fusion of joints
0100240
Talipes
0001883
Toe syndactyly
Fused toes
Webbed toes

[ more ]

0001770
30%-79% of people have these symptoms
Absent thumb
Absent thumbs
0009777
Corneal opacity
0007957
Eyelid coloboma
Cleft eyelid
Notched eyelid

[ more ]

0000625
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Narrow mouth
Small mouth
0000160
Short nose
Decreased length of nose
Shortened nose

[ more ]

0003196
Underdeveloped nasal alae
Underdeveloped tissue around nostril
0000430
5%-29% of people have these symptoms
Abnormality of cardiovascular system morphology
0030680
Bilateral cryptorchidism
0008689
Cupped ear
Cup-shaped ears
Simple, cup-shaped ears

[ more ]

0000378
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
Hypoplastic scapulae
Small shoulder blade
0000882
Microphthalmia
Abnormally small eyeball
0000568
Opacification of the corneal stroma
0007759
Renal hypoplasia/aplasia
Absent/small kidney
Absent/underdeveloped kidney

[ more ]

0008678
Wide intermamillary distance
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples

[ more ]

0006610
1%-4% of people have these symptoms
Axillary pterygium
0001060
Inferiorly positioned umbilicus
0032527
Percent of people who have these symptoms is not available through HPO
Absent eyebrow
Failure of development of eyebrows
0002223
Absent eyelashes
Failure of development of eyelashes
0000561
Anal stenosis
Narrowing of anal opening
0002025
Anonychia
Absent nails
Aplastic nails

[ more ]

0001798
Autosomal recessive inheritance
0000007
Cleft upper lip
Harelip
0000204
Facial cleft
Cleft of the face
0002006
Hypoplastic labia majora
Small labia majora
Underdeveloped vaginal lips

[ more ]

0000059
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation

[ more ]

0001511
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Short phalanx of finger
Short finger bones
0009803
Skin tags
0010609
Small nail
Small nails
0001792
Syndactyly
Webbed fingers or toes
0001159

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. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Popliteal pterygium syndrome, Bartsocas-Papas type. Click on the link to view a sample search on this topic.