[…] of severe, proportionate short stature. [karger.com]

stature syndrome) CDT1 Meier-Gorlin syndrome (Ear-patella-short stature syndrome) ORC1 Meier-Gorlin syndrome (Ear-patella-short stature syndrome) ORC4 Meier-Gorlin syndrome (Ear-patella-short stature syndrome) ORC6 Meier-Gorlin syndrome (Ear-patella-short [genda.com.ar]

OMIM:269870 Short Stature-Obesity Syndrome; SSOS OMIM:614813 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis; SOFT OMIM:614800 Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly; SOPH OMIM:617164 Short Stature, Rhizomelic [informatics.jax.org]

Hypothyroiditis. [109] Lymphatic: Lymphadenopathy. [109] Idiopathic thrombocytopenic purpura (ITP), symptoms of systemic lupus erythematosis (SLE) and other autoimmune diseases. [109] Joints bones muscles cartilage: Short stature. [autoinflammatory-search.org]

stature and fibular hypoplasia Gay Feinmesser Cohen syndrome Lipoic acid synthetase deficiency Saito Kuba Tsuruta syndrome PARC syndrome Bone dysplasia lethal Holmgren type Glaucoma, Ectopia, Microspherophakia, Stiff joints and Short stature syndrome [checkrare.com]

Sexual pain disorders : Sexual pain disorders affect women almost exclusively and a... SGBS : See Simpson-Golabi-Behmel Syndrome. SGS : See Shprintzen-Goldberg Syndrome. Shapiro Syndrome : Shapiro Syndrome is categorized as a rare disease. [psychforums.com]

The reported patient presented with leg pain at the age of 4 years and was also found to have significant short stature (-3 SDS), although not to the degree as we observed in our patients. [karger.com]

Syndrome, Familial, 2 3 Episodic Pain Syndrome, Familial, 3 3 Epstein Syndrome 3 Erythrocytosis, Familial, 2 1 Erythroderma, Ichthyosiform, Congenital Reticular 1 Erythrokeratodermia Variabilis Et Progressiva 1 Erythropoietic Protoporphyria 3 Escobar [preventiongenetics.com]

Immunodeficiency (T -cell receptor/CD3 complex); Immunodeficiency (X-Iinked, with hyper-IgM); Immunodeficiency due to defect in CD3-gamma; Immunodeficiency-centromeric instabilityfacial anomalies syndrome; Incontinentia pigmenti; Insensitivity to pain [ic.gc.ca]

channelopathy-associated ( SCN9A) Insensitivity to pain, congenital, with anhidrosis ( NTRK1) Insomnia, fatal familial ( PRNP) Insulin resistance, severe, digenic ( PPARG) Insulin resistance, severe, digenic ( PPP1R3A) Insulin-like growth factor I, [en.praenatal-medizin.de]

As a result, osteopontin is abnormally active, prolonging bone breakdown by osteoclasts and triggering abnormal inflammation and immune responses by immune cells. [ghr.nlm.nih.gov]

Sympathetic Ophthalmia members Sympathetic Ophthalmia is an inflammation of both eyes following trauma to one eye. Synovial Chondromatosis 1 members Synovial Chondromatosis is a rare benign cancer of the tissue that lines the joints (synovium). [rareshare.org]

anthrax, appendicitis, borreliosis, botulism, Camphylobacter, Chlamydia trachomatis (inflammation of the urethra, conjunctivitis), cholera, diphtheria, donavanosis, epiglottitis, typhus fever, gas gangrene, gonorrhoea, rabbit fever, Heliobacter pylori [ic.gc.ca]

Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation. Nature. 2015; 517:89–93. 12. [springermedizin.de]

[…] resistant KO K14379 tartrate-resistant acid phosphatase type 5 [EC: 3.1.3.2 ] Organism hsa Homo sapiens (human) Pathway hsa00740 Riboflavin metabolism hsa01100 Metabolic pathways hsa04142 Lysosome hsa04380 Osteoclast differentiation hsa05323 Rheumatoid arthritis [genome.jp]

Spinal defects: platyspondyly, irregularities in the vertebral endplates. [109] Cartilage is affected (ears and nose too). [108] Some with concurrent Juvenile Rheumatoid Arthritis (JRA). [autoinflammatory-search.org]

Ancillary Article Information DOI 10.1034/j.1399-0004.2003.00033.x Format Available Full text: HTML PDF Request Permissions Keywords combined immune deficiency; Crohn's disease; juvenile rheumatoid arthritis; plateyspondyly; spondylometaphyseal dysplasia [onlinelibrary.wiley.com]

Immunofluorescence and immunoblot assay for antibodies detected underlying multiple disorders such as systemic lupus erythematosus (SLE), autoimmune thrombocytopenia, and juvenile rheumatoid arthritis (JRA). [ncbi.nlm.nih.gov]

Guo L, Girisha KM, Iida A, Hebbar M, Shukla A, Shah H, Nishimura G, Matsumoto N, Nismath S, Miyake N, Ikegawa S Progressive Pseudorheumatoid Dysplasia Misdiagnosed as Seronegative Juvenile Idiopathic Arthritis. [medicbind.com]

The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. [uniprot.org]

(PMID: 21217755) Briggs TA … Crow YJ (Nature genetics 2011) 3 4 58 Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. [genecards.org]

They had no comorbid conditions and, on physical examination, there were no signs of an overt skeletal dysplasia with normal appearance of extremities. [karger.com]

Some causes may include: 1 Causes of Long Fibula : Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency Spondyloepimetaphyseal Dysplasia, Genevieve Type Spondyloepimetaphyseal Dysplasia, X-Linked Spondylometaepiphyseal Dysplasia, Short [familydiagnosis.com]

Spastic paraplegia 51 Lachiewicz Sibley syndrome 22q11.2 duplication syndrome Subaortic stenosis short stature syndrome Ouvrier Billson syndrome Short rib-polydactyly syndrome type 3 Oculocutaneous albinism type 1 Bardet-Biedl syndrome 3 Autosomal dominant [checkrare.com]

urticaria (hives), eosinophilia, respiratory, allergies to insect stings, skin allergies (leading to and including various rashes, such as eczema, hives (urticaria) and (contact) dermatitis), food allergies, and allergies to medicine. [lens.org]

[…] uroporphyrinogen III synthase (congenital erythropoietic porphyria) 7428 22346 VHL von Hippel-Lindau syndrome 193300 2 3p26-p25 von Hippel-Lindau syndrome 7454 22376 WAS Thrombocytopenia, X-linked, intermittent 300392 6 Xp11.4-p11.21 Wiskott-Aldrich syndrome (eczema-thrombocytopenia [fantom2.gsc.riken.go.jp]

192430 Genetic Test Registry Ventricular Septal Defect 3 VSD3 614432 Genetic Test Registry Whim Syndrome Warts, Hypogammaglobulinemia, Infections, And Myelokathexis Syndrome WHIMS 193670 Genetic Test Registry Wiskott-Aldrich Syndrome Aldrich Syndrome Eczema-Thrombocytopenia-Immunodeficiency [ukgtn.nhs.uk]

Definition A disease characterized by vertebral and metaphyseal dysplasia, spasticity with cerebral calcifications, and strong predisposition to autoimmune diseases. [uniprot.org]

(PMID: 21217755) Briggs TA … Crow YJ (Nature genetics 2011) 3 4 58 Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. [genecards.org]

One case of fatal encephalitis. [109] Some cases with spasticity, cognitive delay or deficits, and/or developmental delay, and cerebral calcifications (late-onset). [109] [110] Auditory: Normal hearing. Recurrent or frequent otitis media. [autoinflammatory-search.org]

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Nat Genet. 2011 Feb;43(2):132-7. doi: 10.1038/ng.749. Epub 2011 Jan 9. [ghr.nlm.nih.gov]