The documents contained in this web site are presented for information purposes only. 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]

Parastremmatic dwarfism is apparent at birth, with affected infants usually being described as "stiff", or as "twisted dwarfs" when the skeletal deformities and appearance of dwarfism further present themselves. [en.wikipedia.org]

Acronym PSTD Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

Of special value is the thorax and various conditions that exhibit that sign. presentation of variability of the condition with age. [books.google.com]

• Dysmorphic Face

  face pelvic scapula dysplasia Short stature heart defect craniofacial anomalies Short stature hyperkaliemia acidosis Short stature locking fingers Short stature mental retardation eye anomalies Short stature mental retardation eye defects Short stature [sosu.us]

• Sweating

  Diagnosis - Parastremmatic dwarfism Routine studies should include a CBC, sedimentation rate, urinalysis, chemistry panel, thyroid profile, VDRL test, quantitative stool fat, a sweat test, and x-rays of the skull and long bones. [checkorphan.org]

• Skeletal Dysplasia

  The advances referred to in this chapter, particularly molecular genetics and database access, have transformed the diagnosis of skeletal dysplasias. [books.google.com]

  Abstract Recent discoveries have established the existence of a family of skeletal dysplasias caused by dominant mutations in TRPV4. [doi.org]

  Indications for Testing Molecular testing for skeletal dysplasias is useful to Confirm a clinical diagnosis based on prenatal or postpartum findings suggestive of a skeletal dysplasia Help exclude a skeletal dysplasia when there is suspicion of nonaccidental [arupconsult.com]

  dysplasia Variation info Gene TRPV4 CLNDBN Spondylometaphyseal dysplasia, Kozlowski type Parastremmatic dwarfism Neuromuscular Diseases Skeletal dysplasia Reversed 1 HGVS NC_000012.11:g.110230500C T CLNSRC OMIM Allelic Variant UniProtKB (protein) CLNACC [snpedia.com]

  dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.144 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sources Expert Review Green Phenotypes Brachyolmia type 3 113500 Digital arthropathy-brachydactyly, familial [panelapp.genomicsengland.co.uk]

• Bowing of The Long Bones

  Imaging Decreased bone density, bowing of the long bones, platyspondyly and striking irregularities of endochondral ossification, with calcific stippling and streaking in radiolucent epiphyses, metaphyses and apophyses. [medical-dictionary.thefreedictionary.com]

  Radiographically, the disease is characterized by a combination of decreased bone density, bowing of the long bones, platyspondyly and striking irregularities of endochondral ossification with areas of calcific stippling and streaking in radiolucent epiphyses [uniprot.org]

  […] diaphysis / diaphyses / long bones - Epiphyseal anomaly - Genu valgum - Kyphosis - Lack / delayed ossification of spine / vertebrae - Metaphyseal anomaly - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Pelvis anomaly / Narrow [csbg.cnb.csic.es]

• Osteoporosis

  MeSH reference: C537172 Very frequent - Abnormal gait - Autosomal dominant inheritance - Bowed diaphysis / diaphyses / long bones - Epiphyseal anomaly - Genu valgum - Kyphosis - Lack / delayed ossification of spine / vertebrae - Metaphyseal anomaly - Osteoporosis [csbg.cnb.csic.es]

  Scoliosis and generalized osteoporosis with compression fractures can be seen (Smith 1967). In Ehlers-Danlos syndrome, platyspondyly affecting only the lumbar spine is characteristic (Kozlowski et al. 1991) (Fig. 3.9 a,b). [rrnursingschool.biz]

  Osteopetrosis late-onset form type 1, Osteoporosis-pseudoglioma syndrome, Osteosclerosis, Van Buchem disease MYH7 Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Myopathy, distal, Myopathy, myosin storage NEB Nemaline myopathy OCRL [genda.com.ar]

  Patellar tendinitis, Golfer's elbow, Tennis elbow, Metatarsalgia, Bone spur, Tendinitis ) other, NEC: Muscle weakness - Rheumatism - Myalgia - Neuralgia - Neuritis - Panniculitis - Fibromyalgia Osteopathies disorders of bone density and structure: Osteoporosis [wikidoc.org]

  […] follicularis dwarfism and cerebral atrophy Microcephalic primordial dwarfism Toriello type Ichthyosis, mental retardation, dwarfism and renal impairment Dwarfism familial with muscle spasms Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis [inspire.com]

• Joint Stiffness

  / delayed ossification of spine / vertebrae - Metaphyseal anomaly - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Platyspondyly - Restricted joint mobility / joint [csbg.cnb.csic.es]

  Arthropathy manifests with painful swelling and joint stiffness involving the hips, the cervical spine, and the finger joints in the hands. [rrnursingschool.biz]

  Gradually he developed joints stiffness and pain all over body with difficulty in walking. [omicsonline.org]

• Flexion Contracture

  Showing of 7 Percent of people who have these symptoms is not available through HPO Autosomal dominant inheritance 0000006 Flexion contracture Flexed joint that cannot be straightened 0001371 Genu valgum Knock knees 0002857 Kyphosis Hunched back Round [rarediseases.info.nih.gov]

• Behavior Disorder

  disorders TBX3 Ulnar-Mammary syndrome TBX19 Adrenocorticotropic hormone deficiency TCF12 Craniosynostosis TCIRG1 Osteopetrosis, severe neonatal or infantile forms (OPTB1) TCOF1 Treacher Collins syndrome TCTN3 Joubert syndrome, Orofaciodigital syndrome [genda.com.ar]

• Short Neck

  Symptoms - Parastremmatic dwarfism * Delayed walking * Abnormal gait * Leg deformities * Large joint contractures * Bowed legs * Genu valga * Twisted thighs * Kyphoscoliosis * Short neck * Decreased bone density * Cranial vault deformities * Long bone [checkorphan.org]

  Affiliated tissues include bone, and related phenotypes are short neck and genu valgum UniProtKB/Swiss-Prot : 76 Parastremmatic dwarfism: A bone dysplasia characterized by severe dwarfism, kyphoscoliosis, distortion and bowing of the extremities, and [malacards.org]

  neck - Short stature / dwarfism / nanism Frequent - Brachycephaly / flat occiput - Frontal bossing / prominent forehead - Genu varum - High forehead - Lower limb asymmetry / hemiatrophy / hemihypertrophy - Pectus carinatum [csbg.cnb.csic.es]

  neck Decreased length of neck 0000470 Showing of 7 Last updated: 6/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging. [rarediseases.info.nih.gov]

  Symmetrical bowing of the long bones (from Greek, parastremmatic twisted), twisted thighs and shanks, severe genu valgum, short neck, kyphoscoliosis, and contractures of major joints are distinguishing features. Intelligence is normal. [rrnursingschool.biz]

• Frontal Bossing

  bossing / prominent forehead - Genu varum - High forehead - Lower limb asymmetry / hemiatrophy / hemihypertrophy - Pectus carinatum [csbg.cnb.csic.es]

• High Forehead

  forehead - Lower limb asymmetry / hemiatrophy / hemihypertrophy - Pectus carinatum [csbg.cnb.csic.es]

• Incontinence

  […] dwarfism is a rare bone disease that features severe dwarfism, thoracic kyphosis (a type of scoliosis that affects the upper back), a distortion and twisting of the limbs, contractures of the large joints, malformations of the vertebrae and pelvis, and incontinence [en.wikipedia.org]

  […] on 2021/05/04 No term available Parastremmatic dwarfism is a rare bone disease that features severe dwarfism, thoracic kyphosis, a distortion and twisting of the limbs, contractures of the large joints, malformations of the vertebrae and pelvis, and incontinence [live.babelnet.org]

  Fecal incontinence 316. Fetal alcohol spectrum disorder 317. FG syndrome 318. Fibrinogenolysis 319. Fibrodysplasia ossificans progressiva 320. Fibromyalgia 321. Fibular hemimelia 322. Finger agnosia 323. Fissured tongue 324. [theirsmineandours.wordpress.com]

• Abnormal Gait

  Symptoms - Parastremmatic dwarfism * Delayed walking * Abnormal gait * Leg deformities * Large joint contractures * Bowed legs * Genu valga * Twisted thighs * Kyphoscoliosis * Short neck * Decreased bone density * Cranial vault deformities * Long bone [checkorphan.org]

  […] chromosomal abnormalities - Epidemiological data: Class of prevalence: Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant External references: 1 OMIM reference - 1 MeSH reference: C537172 Very frequent - Abnormal [csbg.cnb.csic.es]

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]

Please consult your own licensed physician regarding diagnosis and treatment of any medical condition! Please see also our disclaimer. This site complies with the HONcode standard for health information: verify here. Database updated 2019-02-19. [diseasesdatabase.com]

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

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Treatment - Parastremmatic dwarfism Not supplied. Resources - Parastremmatic dwarfism Not supplied. [checkorphan.org]

Prognosis - Parastremmatic dwarfism Not supplied. Treatment - Parastremmatic dwarfism Not supplied. Resources - Parastremmatic dwarfism Not supplied. [checkorphan.org]

Etiology The syndrome is caused by a heterozygous mutation in the TRPV4 gene (12q24.1). The documents contained in this web site are presented for information purposes only. [orpha.net]

Etiology The syndrome is caused by a heterozygous mutation in the TRPV4 gene (12q24.1). Last updated: 9/1/2011 This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. [rarediseases.info.nih.gov]

[…] interstitial and granulonodulo alveolar pattern 324 Interstitialreticular pulmonary pattern 326 Disseminated interstitial pneumonitis 327 The miliary pattern of pneumonia 328 Short linear andor wedgeshaped densities 329 Pulmonary edema in infancy and childhood Etiology [books.google.com]

Summary Epidemiology Only 5 cases have been described to date. Clinical description Radiographs show bowing of long bones, platyspondyly and a very rough, irregular metaphyseal and epiphyseal bone texture. [orpha.net]

[…] malformation Synonym(s): (no synonyms) Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]

Epidemiology Only 5 cases have been described to date. Clinical description Radiographs show bowing of long bones, platyspondyly and a very rough, irregular metaphyseal and epiphyseal bone texture. [rarediseases.info.nih.gov]

Declarations Authors’ Affiliations (1) Genetic Health Services Victoria and Murdoch Childrens Research Institute, Parkville, Victoria, Australia (2) Department of Clinical Pathophysiology, University of Florence and Meyer Children's Hospital Genetics [ojrd.biomedcentral.com]

Prevention - Parastremmatic dwarfism Not supplied. [checkorphan.org]

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]

But if the user usually interacts with the video, he will often see posts of this format in his tape: "We are constantly improving the news line to show you the most relevant stories, and prevent attempts to deceive the system." [keywordsuggest.org]

Deformed, underdeveloped limbs prevented them from walking and relegated them both to wheelchairs. Hazel sat a mere 18 inches tall. Her daughter was even smaller, sitting only 15 inches high. Hazel’s husband was a relative giant, standing 5 feet. [americansideshow.blogspot.com]

HSPB11) apoptotic cell death, role in prevention of IFT27 protein is ras-related, but the function is unknown IFT43 Cranioectodermal dysplasia 3 (CED3) IFT80 Asphyxiating thoracic dystrophy 2 (ATD2) (Jeune syndrome 2) IFT122 Cranioectodermal dysplasia [uniklinik-freiburg.de]