Presentation
Congenital absence of upper arm and forearm with hand present GARD:0012124 ! Macrophage activation syndrome Orphanet:158061 ! Macrophage activation syndrome GARD:0012133 ! Nodding syndrome MESH:D064128 ! Nodding Syndrome GARD:0012138 ! [github.com]
Entire Body System
- Short Stature
[…] bowel syndrome short QT syndrome + SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting Short Stature-Obesity [rgd.mcw.edu]
Thrombotic microangiopathy, familial Thrush Thumb absence hypoplastic halluces Thumb absent short stature immune deficiency Thumb deformity, alopecia, pigmentation anomaly Thumb deformity Thumb stiff brachydactyly mental retardation Thy Thymic carcinoma [bionity.com]
[…] purpura acquired Thrombotic thrombocytopenic purpura congenital Thumb absence hypoplastic halluces Thumb absent short stature immune deficiency Thumb deformity Thumb deformity alopecia pigmentation anomaly Thumb stiff brachydactyly mental retardation [personalizedcause.com]
stature syndrome, Brussels type Short stature wormian bones dextrocardia Short stature-craniofacial anomalies-genital hypoplasia syndrome SHORT syndrome Short-chain acyl-CoA dehydrogenase deficiency Short-limb skeletal dysplasia with severe combined [rarediseases.info.nih.gov]
Microdontia hypodontia short stature MESH:C537553 ! Microdontia hypodontia short stature GARD:0003655 ! Microsporidiosis DOID:4271 ! microsporidiosis GARD:0003670 ! Milner Khallouf Gibson syndrome MESH:C537473 ! [github.com]
- Multiple Congenital Anomalies
Virchows Arch 72:69–91 und Tafel 1 Google Scholar Patau K, et al. (1960) Multiple congenital anomalies by an extra autosome. [link.springer.com]
congenital anomaly Thrombocytopenia purpura Thrombocytopenia Robin sequence Thrombocytopenia Thrombocytopenic purpura, autoimmune Thrombocytosis Thrombomodulin anomalies, familial Thrombotic microangiopathy, familial Thrush Thumb absence hypoplastic [bionity.com]
[…] chemical sensitivity multiple congenital anomalies-hypotonia-seizures syndrome + Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability Multiple Hamartoma Syndrome + multiple mitochondrial dysfunctions syndrome + multiple pterygium [rgd.mcw.edu]
[…] café-au-lait spots Multiple congenital anomalies-hypotonia-seizures syndrome Multiple congenital anomalies-hypotonia-seizures syndrome type 2 Multiple endocrine neoplasia type 1 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B [rarediseases.info.nih.gov]
- Fatigue
Syndrome Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB chromosome 8q21.11 deletion syndrome Chromosome Xp11.3 Deletion Syndrome Chromosome Xq Duplication Syndrome Chromosome Xq28 Duplication Syndrome chronic atrial and intestinal dysrhythmia chronic fatigue [rgd.mcw.edu]
- Lymphadenopathy
[…] simplex encephalitis Heterochromia iridis - Not a rare disease Heterotaxy HIBCH deficiency High molecular weight kininogen deficiency Hirschsprung disease type d brachydactyly Hirschsprung's disease His bundle tachycardia Histidinemia Histiocytosis-lymphadenopathy [rarediseases.info.nih.gov]
Jaw & Teeth
- Macroglossia
Manzke Syndrome Related Diseases for Tollner Horst Manzke Syndrome Diseases related to Tollner Horst Manzke Syndrome via text searches within MalaCards or GeneCards Suite gene sharing: # Related Disease Score Top Affiliating Genes 1 hypertelorism 10.5 2 macroglossia [malacards.org]
Reports Published: May 1981 European Journal of Pediatrics volume 136, pages 207–210 (1981)Cite this article 29 Accesses 5 Citations Metrics details Abstract A case of heptacarpo-octatarso-dactyly combined with cheilo-gnatho-palato-schisis, hypertelorism, macroglossia [link.springer.com]
[…] protein intolerance Mac Dermot Winter syndrome Macrocephaly, benign familial Macrocephaly-short stature-paraplegia syndrome Macrodactyly of the foot Macrodactyly of the hand Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance Macroglossia [rarediseases.info.nih.gov]
Skin
- Erythema
Erythema nodosum, idiopathic MESH:C535511 ! Erythema nodosum, idiopathic GARD:0009261 ! Boerhaave syndrome MESH:C536571 ! Boerhaave syndrome GARD:0009262 ! Paraquat lung MESH:C537171 ! Paraquat lung GARD:0009263 ! Wallenberg syndrome DOID:3522 ! [github.com]
Kearns-Sayre syndrome Kennedy disease Kenny-Caffey syndrome type 1 Kenny-Caffey syndrome type 2 Keratitis, hereditary Keratoderma palmoplantar deafness Keratoderma palmoplantar spastic paralysis Keratoderma palmoplantaris transgrediens Keratolytic winter erythema [rarediseases.info.nih.gov]
- Angioedema
Renin-angiotensin-aldosterone system-blocker-induced angioedema GARD:0009449 ! WaterhousePFriderichsen syndrome MESH:C536685 ! Fatal pneumococcal Waterhouse-Friderichsen syndrome GARD:0009451 ! Xanthogranulomatous cholecystitis DOID:9766 ! [github.com]
Face, Head & Neck
- Hypertelorism
[…] for Tollner Horst Manzke Syndrome Related Diseases for Tollner Horst Manzke Syndrome Diseases related to Tollner Horst Manzke Syndrome via text searches within MalaCards or GeneCards Suite gene sharing: # Related Disease Score Top Affiliating Genes 1 hypertelorism [malacards.org]
Case Reports Published: May 1981 European Journal of Pediatrics volume 136, pages 207–210 (1981)Cite this article 29 Accesses 5 Citations Metrics details Abstract A case of heptacarpo-octatarso-dactyly combined with cheilo-gnatho-palato-schisis, hypertelorism [link.springer.com]
Lewis Type syndactyly type 8 Synpolydactyly 2 Tabatznik Syndrome tarsal-carpal coalition syndrome + Teebi hypertelorism syndrome + Teebi Kaurah Syndrome Tel Hashomer Camptodactyly Syndrome terminal osseous dysplasia Tollner Horst Manzke Syndrome trichorhinophalangeal [rgd.mcw.edu]
Alawadi syndrome Teebi Shaltout syndrome Teebi syndrome Teeth noneruption of with maxillary hypoplasia and genu valgum Tel Hashomer camptodactyly syndrome Telangiectasia ataxia variant V1 Telangiectasia, hereditary hemorrhagic Telangiectasia Telecanthus hypertelorism [bionity.com]
Treatment
There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]
Prevention
Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases. What Are Clinical Studies? Clinical studies are medical research involving people as participants. [rarediseases.info.nih.gov]