Skeletal dysplasia-brachydactyly syndrome Prevalence: <1 / 1 000 000 Inheritance: X-linked dominant Age of onset: Infancy, Neonatal ICD-10: Q87.5 OMIM: 301940 UMLS: C2931060 MeSH: C535914 GARD: 4886 MedDRA: - The documents contained in this web site are presented [orpha.net]

The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

- adapted to a cursorial locomotion, although without presenting the extreme monodactyly that characterizes Thoatherium, so that still retained its three fingers... - didactyly, ectrodactyly, heterodactylous, heterodactyly, leptodactylous, monodactyly [wordaz.com]

Some indicators are presented only for women, and others are presented as a ratio of female to male values. [esehospitaldebaranoa.gov.co]

• Hemophilia A

  […] polyangiitis 1.0 I * 83463 Microtia 15.5 BP 139450 Microtia-eye coloboma- imperforation of the nasolacrimal duct syndrome 1 Family 2290 Microvillus inclusion disease 137 Cases 2557 Mietens syndrome 9 Cases 2558 Mikati-Najjar-Sahli syndrome 5 Cases 169799 Mild hemophilia [azkurs.org]

  Hemochromatosis type 4 Hemoglobin C disease Hemoglobin E disease Hemoglobin SC disease Hemoglobinopathy Hemoglobinuria Hemolytic anemia lethal genital anomalies Hemolytic-uremic syndrome Hemophagocytic lymphohistiocytosis Hemophagocytic reticulosis Hemophilia [sosu.us]

• Anemia

  […] incidence (/100,000) Number of published cases or families 369970 Microcornea-myopic chorioretinal atrophy- telecanthus syndrome 14 Cases 231736 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome 8 Cases 83642 Microcytic anemia [azkurs.org]

  […] type 1 Fanconi anemia type 2 Fanconi anemia type 3 Fanconi–Bickel syndrome Fanconi ichthyosis dysmorphism Fanconi like syndrome Fanconi pancytopenia Fanconi syndrome Fanconi syndrome, renal, with nephrocalcinosis and renal stones Fanconi anemia Fara–Chlupackova [sosu.us]

  […] and hepatic iron overload - See Hypochromic microcytic anemia with iron overload Microcytic anemia with liver iron overload - See Hypochromic microcytic anemia with iron overload Microdeletion 15q13.3 syndrome - See 15q13.3 microdeletion syndrome Microdeletion [herenciageneticayenfermedad.blogspot.com]

  […] cystic disease Medullary thyroid carcinoma Medulloblastoma Meg–Mei [ edit ] Megacystis microcolon intestinal hypoperistalsis syndrome Megaduodenum Mega-epiphyseal dwarfism Megalencephalic leukodystrophy Megalencephaly-cystic leukodystrophy Megaloblastic anemia [en.wikipedia.org]

  Medullary cystic disease Medullary thyroid carcinoma Medulloblastoma Meg-Mei Megacystis microcolon intestinal hypoperistalsis syndrome Megaduodenum Mega-epiphyseal dwarfism Megalencephalic leukodystrophy Megalencephaly-cystic leukodystrophy Megaloblastic anemia [thefullwiki.org]

• Lymphedema

  […] syndrome 2 Cases 137658 Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome 3 Cases 457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 14 Cases 2526 Microcephaly-lymphedema [azkurs.org]

  […] distichiasis Lymphedema hereditary type 1 Lymphedema hereditary type 2 Lymphedema ptosis Lymphedema, congenital Lymphedema Lymphedema–distichiasis syndrome Lympho Lymphoblastic lymphoma Lymphocytes reduced or absent Lymphocytic colitis Lymphocytic infiltrate [sosu.us]

  […] syndrome Lowry Wood Syndrome Lubani Al Saleh Teebi Syndrome Lubinsky Syndrome Lubs Syndrome Lujan Fryns Syndrome LUNG DAMAGE, IMMUNODEFICIENCY AND CHROMOSOME BREAKAGE SYNDROME Luscan-Lumish syndrome Lutembacher's syndrome Lutz Richner Landolt Syndrome Lymphedema [rgd.mcw.edu]

  […] chorioretinal dysplasia - See Lymphedema, microcephaly and chorioretinopathy syndrome Microcephaly microcornea syndrome Seemanova type Microcephaly micropenis convulsions Microcephaly micropenis seizures - See Microcephaly micropenis convulsions Microcephaly [herenciageneticayenfermedad.blogspot.com]

  Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported. [pubcasefinder.dbcls.jp]

• Torticollis

  Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency Male pseudohermaphroditism due to defective LH molecule Malformations in neuronal migration Malignant fibrous histiocytoma Malignant germ cell tumor Malignant hyperthermia arthrogryposis torticollis [mindmappedia.com]

  […] pseudohermaphroditism due to 5-alpha-reductase 2 deficiency Male pseudohermaphroditism due to defective LH molecule Malformations in neuronal migration Malignant astrocytoma Malignant fibrous histiocytoma Malignant germ cell tumor Malignant hyperthermia arthrogryposis torticollis [en.wikipedia.org]

  Malignant hyperthermia arthrogryposis torticollis[?] Malignant hyperthermia susceptibility type 1[?] Malignant hyperthermia susceptibility type 2[?] Malignant hyperthermia susceptibility type 3[?] Malignant hyperthermia susceptibility type 4[?] [encyclopedia.kids.net.au]

• Akinesia

  […] type Micromelic dysplasia dislocation of radius Microphtalmos bilateral colobomatous orbital cyst Microphthalmia camptodactyly mental retardation Microphthalmia diaphragmatic hernia Fallot Microphthalmia mental deficiency Microphthalmia microtia fetal akinesia [mindmappedia.com]

  OMIM:249310 Find images (Google) Monarch GTR:C0796086 399 (72.1%) fetal akinesia deformation sequence 1 Camptodactyly of finger Long philtrum Micrognathia Slender long bone Telecanthus Autosomal recessive inheritance Any fetal akinesia deformation sequence [pubcasefinder.dbcls.jp]

  […] bilateral colobomatous orbital cyst Microphthalmia Microphthalmia, Lentz type Microphthalmia camptodactyly mental retardation Microphthalmia cataract Microphthalmia diaphragmatic hernia Fallot Microphthalmia mental deficiency Microphthalmia microtia fetal akinesia [en.wikipedia.org]

  […] dislocation of radius Microphtalmos bilateral colobomatous orbital cyst Microphthalmia camptodactyly mental retardation Microphthalmia cataract Microphthalmia diaphragmatic hernia Fallot Microphthalmia mental deficiency Microphthalmia microtia fetal akinesia [thefullwiki.org]

  Microphthalmia microtia fetal akinesia[?] Microphthalmia, Lentz type[?] Microphthalmia[?] Microphthalmos, microcornea, and sclerocornea[?] Microscopic polyangiitis[?] Microsomia hemifacial radial defects[?] Microspherophakia metaphyseal dysplasia[?] [encyclopedia.kids.net.au]

• Dysarthria

  […] type Mental retardation X linked Brunner type Mental retardation X linked Tranebjaerg type seizures psoriasis Mental retardation X linked borderline Maoa metabolism anomaly Mental retardation X linked dysmorphism Mental retardation X linked dystonia dysarthria [mindmappedia.com]

  Mental retardation Wolff type Mental retardation X linked Atkin type Mental retardation X linked borderline Maoa metabolism anomaly Mental retardation X linked Brunner type Mental retardation X linked dysmorphism Mental retardation X linked dystonia dysarthria [en.wikipedia.org]

  Mental retardation X linked dystonia dysarthria[?] Mental retardation X linked severe Gustavson type[?] Mental retardation X linked short stature obesity[?] Mental retardation X linked Tranebjaerg type seizures psoriasis[?] [encyclopedia.kids.net.au]

• Spastic Quadriplegia

  quadriplegia Microcephaly, holoprosencephaly, and intrauterine growth retardation Microcephaly, primary autosomal recessive Microcornea corectopia macular hypoplasia Microcornea glaucoma absent frontal sinuses Microdontia hypodontia short stature Microgastria [mindmappedia.com]

  […] ataxia + Spastic Diplegia Infantile Type Spastic Paraplegia and Evans Syndrome Spastic Paraplegia Epilepsy Mental Retardation Spastic Paraplegia with Kallmann Syndrome Spastic Paraplegia, Ataxia, and Mental Retardation SPASTIC PARAPLEGIA, INTELLECTUAL [rgd.mcw.edu]

  quadriplegia Microcephaly, holoprosencephaly, and intrauterine growth retardation Microcephaly, primary autosomal recessive Microcephaly Microco Microcoria, congenital Microcornea corectopia macular hypoplasia Microcornea glaucoma absent frontal sinuses [thefullwiki.org]

  Microcephaly with spastic quadriplegia[?] Microcephaly, holoprosencephaly, and intrauterine growth retardation[?] Microcephaly, primary autosomal recessive[?] Microcephaly Microcoria, congenital[?] Microcornea corectopia macular hypoplasia[?] [encyclopedia.kids.net.au]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [resourcerepository.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

PMID: 29291206Free PMC Article Prognosis Košutova P, Mikolka P Physiol Res 2021 Dec 30;70(Suppl4):S567-S583. doi: 10.33549/physiolres.934767. [ncbi.nlm.nih.gov]

Lesions in heavily loaded joints have a poor prognosis and will probably end in structural failure if left untreated. Simple measures to reduce loading of weight-bearing joints may help, though their value has not been proven. [esehospitaldebaranoa.gov.co]

The prognosis is poor and this condition leads to death in utero or shortly after birth. [pubcasefinder.dbcls.jp]

Etiology of Somatic Earmark Disturbance Biologically, probing has been conducted with regard to the possibility of a genetic or biological predisposition to somatic difficul- ties. [widewallpapergallery.com]

PMID: 24569125 Etiology Giudice V, Selleri C Semin Hematol 2022 Jan;59(1):13-20. Epub 2022 Jan 5 doi: 10.1053/j.seminhematol.2021.12.002. [ncbi.nlm.nih.gov]

Molecular Epidemiology: Focus on Infection. [blkmaxhospital.com]

In the "Epidemiology" subsection underneath, the spec- trum of neurological manifestations in GRDs is reviewed, recent advances in their diagnosis are discussed and doable pathophysiological mechanisms are explored. [nhha.org]

In the "Epidemiology" subsection underneath, the spec- trum of neurological manifestations in GRDs is reviewed, recent advances in their diagnosis are discussed and doable pathophysiological mechanisms are explored. [nhha.org]

PC MRI tide calculation studies drink also contributed to get wind of venous contributions to the pathophysiology of communicating and normal burden hydrocephalus [110112], or hydrocephalus associated with malformative syndromes like achondroplasia [113 [widewallpapergallery.com]

Views How To Eliminate, Prevent & Reverse The Way Our Body Ages & Dies Basic nutrition is often thought of in terms of Carbohydrates, Fats and Proteins. [momentumhealth.net]

And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

Prevention Where risk factors for osteonecrosis are recognized, preventive steps can be taken especially in the management of corticosteroid medication and alcohol abuse. [esehospitaldebaranoa.gov.co]

Preventing high blood pressure and stroke. Preventing prostate cancer. Consuming sweet oranges or sweet orange juice does not decrease the chance of getting prostate cancer. Selegiline Cyclophosphamide Norvasc 9 of 10 - Review by I. [nhha.org]

PATHWAYS CONTRIBUTING TO CNS MALTREATMENT NEUROPROTECTION VERSUS NEURORESUSCITATION Neuroprotection, as the term is most commonly used, is the custom of preventing or minimizing the effects of the far-reaching secondary or tertiary mayhem that occurs [widewallpapergallery.com]