NIH Rare Diseases
:
54
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1234Disease definitionBartsocas-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.
MalaCards based summary
:
Bartsocas-Papas Syndrome, also known as
popliteal pterygium syndrome lethal type, is related to
popliteal pterygium syndrome and
chand syndrome. An important gene associated with Bartsocas-Papas Syndrome is
RIPK4 (Receptor Interacting Serine/Threonine Kinase 4), and among its related pathways/superpathways are
NF-kappaB Signaling and
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include
bone,
skin and
eye, and related phenotypes are
finger syndactyly and
synostosis of joints
OMIM
:
58
Bartsocas-Papas syndrome (lethal popliteal pterygium syndrome) is an autosomal recessive disorder characterized by multiple popliteal pterygia, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, and syndactyly. Early lethality is common, although survival into childhood and beyond has been reported (summary by Mitchell et al., 2012).
A less severe form of popliteal pterygium syndrome (119500) is caused by mutation in the IRF6 gene (607199).
(263650)
UniProtKB/Swiss-Prot
:
76
Popliteal pterygium syndrome, lethal type: An autosomal recessive disorder characterized by multiple popliteal pterygia leading to severe arthrogryposis, ankyloblepharon filiforme adnatum, filiform bands between the jaws, synostosis of the carpal/tarsal and phalangeal bones in the hands and feet, digital hypoplasia/aplasia, complete soft-tissue syndactyly, lack of nails, lack of scalp hair, eyebrows and eyelashes, blepharophimosis, cleft lip and/or palate, and hypoplastic external genitalia. Early lethality is common, although survival into childhood and beyond has been reported.
Wikipedia
:
77
Multiple pterygium syndrome is a cutaneous condition inherited in an autosomal dominant...
more...
