Popliteal pterygium syndrome, Bartsocas-Papas type

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Disease Profile

<1 / 1 000 000

US Estimated

Europe Estimated

Age of onset

Antenatal

ICD-10

Q87.2

Inheritance

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.

X-linked
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)

Bartsocas Papas syndrome; BPS; Pterygium popliteal lethal type;

Summary

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

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

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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.

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