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]

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

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]

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]

• 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]

• Severe Short Stature

  short stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Short 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]

• Long Arm

  Parastremmatic dwarfism is caused by a missense mutation (where one amino acid is replaced by another in a gene sequence) in the TRPV4 gene, located on the long arm of human chromosome 12, at 12q24.11. [en.wikipedia.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]

• Long-Bone Deformity

  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]

• Behavior Disorder

  […] of sex development, 46,XY disorder of sex development STAT5B Growth hormone insensitivity with immunodeficiency STIL Microcephaly SYN1 Epilepsy, with variable learning disabilities and behavior disorders TBX3 Ulnar-Mammary syndrome TBX19 Adrenocorticotropic [genda.com.ar]

• Frontal Bossing

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

• Incontinence

  […] 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]

  […] 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 [ijunoon.com]

  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]

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]

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]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

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]