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]

• Short Stature

  Short stature monodactylous ectrodactyly cleft palate Short stature prognathism short femoral necks Short stature Robin sequence cleft mandible hand anomalies clubfoot Short stature talipes natal teeth Short stature valvular heart disease Short stature [sosu.us]

  Parastremmatic Dwarfism is further characterised by short stature, bowing of extremeties and further neuroskeletal dysplasia. [en.wikipedia.org]

  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]

  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]

  […] syndrome de dysplasie osseuse Larsen-like-nanisme Larsen-like osseous dysplasia, short stature syndrome SNOMEDCT-BE (disorder) / 764956007 SNOMEDCT-BE (disorder) / 764956007 nanisme microcéphalique primordial type Dauber Microcephalic primordial dwarfism [wordscope.com]

• Falling

  To make squares disappear and save space for other squares you have to assemble English words (left, right, up, down) from the falling squares. boggle Boggle gives you 3 minutes to find as many words (3 letters or more) as you can in a grid of 16 letters [dictionary.sensagent.com]

  Hypokalemic Periodic Paralysis September 27, 2018 by Peter Ciszewski Hypokalemic periodic paralysis (HOKPP) is characterized by episodes of muscle paralysis associated with a fall in blood potassium levels (hypokalemia). [checkrare.com]

  MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines. [mybiosource.com]

  And as the audience applauded and cried with us, I felt God’s light shining down upon me as I embraced my father more warmly than I ever had before, tears unashamedly falling down both our faces. [chickensoup.com]

  FlyBase Computed Cytological Location Cytogenetic map Evidence for location Experimentally Determined Cytological Location Cytogenetic map Notes References Experimentally Determined Recombination Data Please Note This section lists cDNAs and ESTs that fall [flybase.org]

• Vietnamese

  Dutch English Estonian Finnish French German Greek Hebrew Hindi Hungarian Icelandic Indonesian Italian Japanese Korean Latvian Lithuanian Malagasy Norwegian Persian Polish Portuguese Romanian Russian Serbian Slovak Slovenian Spanish Swedish Thai Turkish Vietnamese [dictionary.sensagent.com]

  Vietnamese 298. Vlach 299. Welsh 300. Wolof 301. Wopkaimin 302. White 303. Xhosa 304. Yakoma 305. Yao 306. Yazidi 307. Yi 308. Yoruba 309. Yugoslav 310. Zarma 311. Zazaki 312. Zhuang 313. Zulu I roll a 96. He is ethnically Georgian. [theirsmineandours.wordpress.com]

• Turkish

  Danish Dutch English Estonian Finnish French German Greek Hebrew Hindi Hungarian Icelandic Indonesian Italian Japanese Korean Latvian Lithuanian Malagasy Norwegian Persian Polish Portuguese Romanian Russian Serbian Slovak Slovenian Spanish Swedish Thai Turkish [dictionary.sensagent.com]

  Turkish 289. Turkmen 290. Tutsi 291. Tuvaluan 292. Twa 293. Ukrainian 294. Uyghur 295. Uzbek 296. Venda 297. Vietnamese 298. Vlach 299. Welsh 300. Wolof 301. Wopkaimin 302. White 303. Xhosa 304. Yakoma 305. Yao 306. Yazidi 307. Yi 308. Yoruba 309. [theirsmineandours.wordpress.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]

• Respiratory Insufficiency

  Death usually occurs from respiratory insufficiency or brain stem compression within hours or days of birth. There are 13 pathogenic variants in the FGFR3 gene known to be causative for TD. [arupconsult.com]

• Eruptions

  […] type 1 PHEX Hypophosphatemic rickets PLOD2 Bruck syndrome, Osteogenesis imperfecta type 3 PPIB Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 PTH1R Blomstrand dysplasia, Eiken dysplasia, Failure of tooth eruption [genda.com.ar]

  Generalized eruptive histiocytoma 344. Genodermatosis 345. Geographic tongue 346. Gerodermia osteodysplastica 347. Gerstmann syndrome 348. Gigantism 349. Gilbert’s syndrome 350. Global aphasia 351. Glucose-galactose malabsorption 352. [theirsmineandours.wordpress.com]

  […] with macrocephaly and ventriculomegaly association PTH1R (= PTHR) Chondrodysplasia, Blomstrand type (BOCD) Eiken syndrome (Bone modeling defect of hands and feet) Enchondromatosis, multiple, Ollier type (ENCHOM) (Osteochondromatosis) Failure of tooth eruption [uniklinik-freiburg.de]

• Alopecia

  Hypopituitary dwarfism SNOMEDCT-BE (disorder) / 367460001 SNOMEDCT-BE (disorder) / 367460001 syndrome d'alopécie-contractures-nanisme-déficience intellectuelle A form of ectodermal dysplasia syndrome with characteristics of short stature of prenatal onset, alopecia [wordscope.com]

  Polycystic kidney disease, type 2 Polycystic kidney disease, type 3 Polycystic kidney disease Polycystic ovarian disease, familial Polycystic ovarian syndrome Polycystic ovaries urethral sphincter dysfunction Polycythemia vera Polyd–Polyo Polydactyly alopecia [sosu.us]

  Read More Conditions Microcephalic osteodysplastic primordial dwarfism type 1 Dwarfism Microcephalic osteodysplastic primordial dwarfism type 2 Lenz Majewski hyperostotic dwarfism Dwarfism Levi type Alopecia-contractures-dwarfism-intellectual disability [inspire.com]

• Keratosis

  Radiographs show bowing of long bones, platyspondyly and a very rough, irregular SNOMEDCT-BE (disorder) / 722210007 SNOMEDCT-BE (disorder) / 722210007 syndrome de kératose folliculaire-nanisme-atrophie cérébrale Keratosis follicularis, dwarfism, cerebral [wordscope.com]

  […] osteodysplastic primordial dwarfism type 2 Lenz Majewski hyperostotic dwarfism Dwarfism Levi type Alopecia-contractures-dwarfism-intellectual disability syndrome Microcephalic primordial dwarfism, Montreal type Geleophysic dwarfism Genital dwarfism Keratosis [inspire.com]

  […] palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis WNT10A Keratosis, seborrheic, somatic FGFR3 Kinky hair disease ATP7A+del+dup Klein-Waardenburg syndrome PAX3+del Klippel-Feil syndrome 1, autosomal dominant (KFS1) GDF6 Kniest dysplasia [uniklinik-freiburg.de]

• Photophobia

  SNOMEDCT-BE (disorder) / 367460001 SNOMEDCT-BE (disorder) / 367460001 syndrome d'alopécie-contractures-nanisme-déficience intellectuelle A form of ectodermal dysplasia syndrome with characteristics of short stature of prenatal onset, alopecia, ichthyosis, photophobia [wordscope.com]

  Photophobia 674. Photosensitive epilepsy 675. Pica 676. Pleomorphic xanthoastrocytoma 677. PNP-deficiency 678. POEMS syndrome 679. Poly drug use 680. Polyarteritis nodosa 681. Polychromasia 682. Polycystic kidney disease 683. Polycythemia 684. [theirsmineandours.wordpress.com]

• Platyspondyly

  […] is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.EpidemiologyOnly 5 cases have been described to date.Clinical descriptionRadiographs show bowing of long bones, platyspondyly [malacards.org]

  Clinical description Radiographs show bowing of long bones, platyspondyly and a very rough, irregular metaphyseal and epiphyseal bone texture. Etiology The syndrome is caused by a heterozygous mutation in the TRPV4 gene (12q24.1). [orpha.net]

  […] between short-trunk dwarfism and platyspondyly. [rrnursingschool.biz]

  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]

• 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]

• Ankylosis

  DETERMINISME GENETIQUE RADIOGRAPHIE OS CYPHOSCOLIOSE ARTICULATION ANKYLOSE RACHIS MALFORMATION DYSPLASIE OSSEUSE OSTEOPATHIE HEREDITAIRE NANISME PARASTREMMATIQUE PATHOLOGIE OSTEOARTICULAIRE Keyword (en) DEFORMATION INHERITANCE RADIOGRAPHY BONE KYPHOSCOLIOSIS ANKYLOSIS [pascal-francis.inist.fr]

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

  […] rib thoracic dysplasia with or without polydactyly NF1 Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndrome NFIX Marshall-Smithsyndrome NIPBL Cornelia de Lange syndrome NOG Brachydactyly type B2, Multiple synostosis syndrome, Stapes ankylosis [genda.com.ar]

  […] variant V1 Telangiectasia, hereditary hemorrhagic Telangiectasia Telecanthus hypertelorism pes cavus Telecanthus with associated abnormalities Telencephalic leukoencephalopathy Telfer–Sugar–Jaeger syndrome Temporal epilepsy, familial Temporomandibular ankylosis [sosu.us]

  Helena dysplasia NPR2 Stapes ankylosis with broad thumb and toes (SABTS) NOG Steely hair disease ATP7A+del+dup Stickler sydrome COL2A1+del, COL11A1+del, COL11A2, COL9A1, COL9A2 Stickler syndrome, atypical COL2A1+del Stickler syndrome, vitreous type COL2A1 [uniklinik-freiburg.de]

• 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]

• Confusion

  […] imprinted Sources Expert Review Red Expert Review Phenotypes Monozygotic twins concordant for Kleine-Levin Syndrome recurrent hypersomnia behavioral disturbances compulsive eating and drinking (or decreased eating) sexual disinhibition irritability confusion [panelapp.genomicsengland.co.uk]

  All she did was a simple striptease, which often left the crowds utterly confused. Her fortune quickly attracted relatives eager to travel with her and get a cut of her earnings. [americansideshow.blogspot.com]

  Her words confused me. “What do you mean?” I asked her. Jane looked at me really strangely. “What do you mean, what do I mean? Your father’s wonderful. I remember when we were kids, and I’d sleep over at your house. [chickensoup.com]

  It seems that the problem is on our side, we have confused something, I think this is related to the beta version of Search Console. Perhaps there are some processes that need to be re-tested. [keywordsuggest.org]

  Universal platyspondyly, often of severe degree, develops with increasing age in patients with mucopolysaccharido-sis IV (Morquio syndrome, OMIM 253000), a condition that has long been confused with Dyggve-Mel-chior-Clausen dysplasia owing to the association [rrnursingschool.biz]

• Seizure

  367460001 SNOMEDCT-BE (disorder) / 367460001 syndrome d'alopécie-contractures-nanisme-déficience intellectuelle A form of ectodermal dysplasia syndrome with characteristics of short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures [wordscope.com]

  […] benign familial neonatal recessive form Seizures mental retardation hair dysplasia Sel–Seq Selective mutism Selenium poisoning Self-defeating personality disorder Selig–Benacerraf–Greene syndrome Seminoma Semmerkrot–Haraldsson–Weenaes syndrome Sener [sosu.us]

  Epileptic encephalopathy, early infantile, 1 (EIEE1) (West syndrome, X-linked) Hydranencephaly with abnormal genitalia Lissencephaly, X-linked 2 (LISX2) (Lissencephaly, X-linked, with ambiguous genitalia (XLAG)) Mental retardation, X-linked, with or without seizures [uniklinik-freiburg.de]

  PDCD10 Cerebral cavernous malformations PEX7 Refsum disease, Rhizomelic CDP type 1 PHEX Hypophosphatemic rickets PHF6 Borjeson-Forssman-Lehmann syndrome PIEZO2 Distal arthrogryposis, Marden-Walker syndrome PIGA Multiple congenital anomalies-hypotonia-seizures [genda.com.ar]

• 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]

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]

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]