TY - JOUR T1 - Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome"). [unboundmedicine.com]

Growth impairment is observed during early childhood and results in variable short stature in adulthood. [malacards.org]

Symptoms related to Facial dysmorphism, immunodeficiency, livedo, and short stature include: Head abnormality Broad forehead Cardiovascular system abnormality Telangiectases of the cheeks Immune system symptoms Bone pain Respiratory system abnormality [familydiagnosis.com]

stature Pica SOURCES: ORPHANET DOID NCIT MESH GARD MONDO SCTID OMIM UMLS More info about NIJMEGEN BREAKAGE SYNDROME; NBS High match SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED In patients with SSMED, short stature and microcephaly are [mendelian.co]

UniProtKB/Swiss-Prot : 76 Facial dysmorphism, immunodeficiency, livedo, and short stature: A syndrome characterized by mild facial dysmorphism, mainly malar hypoplasia, livedo on the skin since birth, and immunodeficiency resulting in recurrent infections [malacards.org]

Definition A syndrome characterized by mild facial dysmorphism, mainly malar hypoplasia, livedo on the skin since birth, and immunodeficiency resulting in recurrent infections. [uniprot.org]

infections, and short stature (summary by Pachlopnik Schmid\net al., 2012).' [lifemodules.org]

Some patients may have a primary immunodeficiency disorder with recurrent infections associated with variably abnormal T- and B-cell function ( Tsujita et al., 2016 ). [mendelian.co]

infection due to specific granule deficiency Recurrent infections associated with rare immunoglobulin isotypes deficiency Reticular dysgenesis Roifman syndrome Say-Barber-Miller syndrome Schimke immuno-osseous dysplasia Secondary hemophagocytic lymphohistiocytosis [se-atlas.de]

I cannot think of any circumstances under which a painter can go bankrupt on his overhead expenses nor are there any circumstances in which a painter can be inhibited by lack of money’. 41 A new contract signed in 1962 gave Hepworth greater freedom to [tate.org.uk]

[…] the Second World War and on establishing their gallery in London in 1946 they settled on the French name Gimpel Fils – Gimpel Sons – in tribute to their father, who had served in the Resistance and had died in early 1945 at Neuengamme concentration camp [tate.org.uk]

External links DermNet Symptoms and signs : skin and subcutaneous tissue ( R20–R23, 782 ) Disturbances of skin sensation Hypoesthesia Paresthesia Formication Hyperesthesia Hypoalgesia Hyperalgesia Circulation Cyanosis Pallor / Livedo Livedo reticularis [worldlibrary.org]

MalaCards based summary : Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature, also known as fils syndrome, is related to sneddon syndrome and livedoid vasculitis, and has symptoms including pruritus, flushing and icterus. [malacards.org]

Stature OMIM:305550 Fingerprint Body Myopathy OMIM:136120 Fish-Eye Disease; FED OMIM:228980 Fleck Retina, Familial Benign; FRFB OMIM:228990 Fleck Retina of Kandori OMIM:136140 Floating-Harbor Syndrome; FLHS OMIM:136150 Flood Factor Deficiency OMIM:136200 Flushing [informatics.jax.org]

External links DermNet Symptoms and signs : skin and subcutaneous tissue ( R20–R23, 782 ) Disturbances of skin sensation Hypoesthesia Paresthesia Formication Hyperesthesia Hypoalgesia Hyperalgesia Circulation Cyanosis Pallor / Livedo Livedo reticularis Flushing [worldlibrary.org]

MalaCards based summary : Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature, also known as fils syndrome, is related to sneddon syndrome and livedoid vasculitis, and has symptoms including pruritus, flushing and icterus. [malacards.org]

[…] herpetiformis Inflammatory Dermatitis and eczema Atopic dermatitis · Seborrhoeic dermatitis ( Dandruff, Cradle cap ) · Contact dermatitis ( Diaper rash, Urushiol-induced contact dermatitis ) · Erythroderma · Lichen simplex chronicus / Prurigo nodularis · Itch ( Pruritus [wikidoc.org]

Affiliated tissues include skin, bone and t cells, and related phenotypes are bone pain and malar flattening OMIM : 58 FILS syndrome is characterized by mild facial dysmorphism, mainly malar hypoplasia, livedo on the skin since birth, immunodeficiency [malacards.org]

Symptoms related to Facial dysmorphism, immunodeficiency, livedo, and short stature include: Head abnormality Broad forehead Cardiovascular system abnormality Telangiectases of the cheeks Immune system symptoms Bone pain Respiratory system abnormality [familydiagnosis.com]

[…] dysplasia Aplasia/Hypoplasia of the corpus callosum Abnormality of vision Aortic regurgitation Holoprosencephaly Aplasia/Hypoplasia of the cerebellum Myelodysplasia Bifid scrotum Relative macrocephaly Nephroblastoma Abnormality of immune system physiology Bone [mendelian.co]

There is preliminary evidence suggesting women with PPAP may have an increased risk of endometrial cancer; however, this risk appears to be limited to those with a POLD1 pathogenic variant (PMID: 26133394, 25529843, 23263490, 26822575 ). [invitae.com]

In an interview with the Sunday Times in 1960 Peter Gimpel suggested that British taste was forty years behind artistic developments and that the Royal Academy had stifled the British people’s appreciation of modern art; he noted with some regret that [tate.org.uk]

The length of identical by descent segments in genomes of CMH812 parents suggests that they are not closely related. [link.springer.com]

In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. [mendelian.co]

Authors suggested that XLA combined with JIA may contribute to invasive K. pneumoniae infection. A single case of aseptic arthritis has been reported with μ heavy chain deficiency and λ5 deficiency [62,63]. [symbiosisonlinepublishing.com]

[…] by Hepworth and it was probably around this time in 1964 that she was informed by her friend the critic Herbert Read that Harry Fischer of Marlborough was keen to work with her, although Fischer was apparently reticent about making the approach for fear [tate.org.uk]

Dysmetria Long face Dilated cardiomyopathy Renal agenesis Synophrys Short philtrum Retinopathy Abnormal pyramidal sign Rigidity Hypogonadism Broad nasal tip Renal hypoplasia Sensory axonal neuropathy Abnormal lung morphology Broad-based gait Postural tremor [mendelian.co]

Congenital OMIM:136520 Foveal Hypoplasia 1; FVH1 OMIM:609218 Foveal Hypoplasia 2; FVH2 OMIM:136540 Fragile Site 10q23 OMIM:136580 Fragile Site, Distamycin A Type, Rare, Fra(16)(q22.1); FRA16B OMIM:300624 Fragile X Syndrome; FXS OMIM:300623 Fragile X Tremor [informatics.jax.org]

Dementia and geriatric cognitive disorders. 38(1-2) : 1-9, 2014. Umoren IE, Fils JM, Stewart JT. Frontotemporal dementia-a chameleon? The Primary Care Companion to CNS Disorders. 13(2), 2011. Fils JM, Stewart JT. [health.usf.edu]

Dementia and geriatric cognitive disorders. 38(1-2) : 1-9, 2014. Umoren IE, Fils JM, Stewart JT. Frontotemporal dementia-a chameleon? The Primary Care Companion to CNS Disorders. 13(2), 2011. Fils JM, Stewart JT. [health.usf.edu]

Members of staff at Gimpel Fils have recalled that in the 1990s Kay continued to speak of ‘Barbara’ with such regularity that it was possible to forget that she had died some twenty years earlier. 31 Fig.2 Charles Gimpel Photograph of Barbara Hepworth [tate.org.uk]