Create issue ticket

205 Possible Causes for Chondrodysplasia Punctata, Fetal Warfarin Syndrome

  • Warfarin

    punctata) may occur.[emedicine.medscape.com] Fetal warfarin syndrome (FWS) or warfarin embryopathy, characterised by nasal hypoplasia and skeletal abnormalities, including short limbs and digits, and stippled epiphyses[medicinesinpregnancy.org] Warfarin embryopathy is characterized by nasal hypoplasia with or without stippled epiphyses (chondrodysplasia punctata) and growth retardation (including low birth weight[rxlist.com]

  • Hunermann Conradi Syndrome

    "X-linked dominant chondrodysplasia punctata: review of literature and report of a case". Hum Genet . vol. 53. 1979. pp. 65-73.[dermatologyadvisor.com] […] calcification seen in warfarin embryopathy. and wikipedia mentions that fetal warfarin syndrome is called as DiSala syndrome .[medicalfundas.blogspot.com] Erratum: Abnormal sterol metabolism in patients with Conradi-Hunermann- Happle syndrome and sporadic lethal chondrodysplasia punctata (American Journal of Medical Genetics[jhu.pure.elsevier.com]

  • Rhizomelic Chondrodysplasia Punctata

    Group 2 - Disruption of Vit K metabolism Disorder Clinical features Skeletal anomalies Site of stippling Fetal warfarin syndrome flat nasal bridge,cataract cardiac defects[slideshare.net] Rhizomelic chondrodysplasia punctata is a rare developmental brain disorder characterized by systemic shortening of the proximal bones (i.e. rhizomelia ), seizures , recurrent[en.wikipedia.org] Relatively few reports discuss antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata.[ncbi.nlm.nih.gov]

  • Noonan Syndrome with Multiple Lentigines

    ) Фетальний варфаріновий синдром (fetal warfarin syndrome) Нирок, геніталій і середнього вуха аномалії (renal, genital and middle ear anomalies) Глухота проводить, гипертелоризм[uadownlethis.ru] PUNCTATA (see RHIZOMELIC CHONDRODYSPLASIA PUNCTATA) CHOTZEN'S SYNDROME CIRRHOSIS OF THE LIVER CLEFT LIP AND PALATE CLINODACTILY OF THE FIRST FINGER – online-only CLOACAL[euro-libris.ro] ) Мегалокорнеа і розумової відсталості синдром (megalocornea mental retardation syndrome) Глухота, очні і лицьові аномалії, протеїнурія (facio-oculo-acustico-renal syndrome[uadownlethis.ru]

  • Chondrodysplasia Punctata

    Radiograph revealed stippled ephiphysis of vertebra, femora and humera supporting diagnosis of fetal warfarin syndrome.[ncbi.nlm.nih.gov] punctata 215100 , 222765 , 600121 X-linked recessive chondrodysplasia punctata 302950 Conradi-Hünermann syndrome 302960 Autosomal dominant chondrodysplasia punctata 118650[en.wikipedia.org] Group 2 - Disruption of Vit K metabolism Disorder Clinical features Skeletal anomalies Site of stippling Fetal warfarin syndrome flat nasal bridge,cataract cardiac defects[slideshare.net]

  • Lissencephaly 6 with Microcephaly

    punctata (215100) Cataract Roberts’ syndrome (268300) Hypertelorism, shallow orbits, prominent eyes, bluish sclerae, corneal clouding, microphthalmia, cataract, lid coloboma[clinicalgate.com] […] de Lange syndrome Feingold syndrome Freeman Sheldon syndrome holoprosencephaly spectrum due to in utero substance / drug exposure fetal Warfarin syndrome fetal hydantoin[radiopaedia.org] (312170) Episodic ptosis, abnormal eye movements Pyruvate dehydrogenase deficiency (312170) Nystagmus, ptosis, saccade initiation failure, oculomotor apraxia Rhizomelic chondrodysplasia[clinicalgate.com]

  • Fetal Warfarin Syndrome

    Warfarin, an oral anticoagulant acting on vitamin K dependent clotting factors is known to cause chondrodysplasia punctata.[ncbi.nlm.nih.gov] External links [ edit ] Datagenno - Fetal Warfarin Syndrome[en.wikipedia.org] Associations: The similarity between this syndrome and recessive chondrodysplasia punctata (CDPX) has suggested a common pathogenesis for these two disorders.[fetalultrasound.com]

  • X-Linked Dominant Chondrodysplasia Type Chassaing-Lacombe

    Punctata Rhizomelic Chondrodysplasia Punctata , Type 1 Rhizomelic Chondrodysplasia Punctata , Type 2 Rhizomelic Chondrodysplasia Punctata , Type 3 Rhizomelic Dysplasia ,[familydiagnosis.com] warfarin syndrome List of cutaneous conditions List of radiographic findings associated with cutaneous conditions References [ edit ] Thomas Bernard Fitzpatrick; Irwin M.[en.wikipedia.org] Conradi-Hünermann syndrome-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysis.[rarediseases.org]

  • Grebe Syndrome

    syndrome Fetal valproate syndrome Fetal warfarin syndrome FG syndrome First arch syndrome Floating-Harbor syndrome Frasier syndrome Freeman-Sheldon syndrome Frontometaphyseal[emedcodes.com] ] Chondrodysplasia pseudohermaphrodism syndrome --also known as-- Pseudohermaphrodism and chondrodysplasia ,[ [128] ] [129] Chondrodysplasia punctata with steroid sulfatase[en.wikipedia.org] Enviornmental Agents Fetal Alcohol Syndrome Fetal Hydantoin Syndrome Fetal Valproate Syndrome Fetal Warfarin Syndrome Fetal Aminopterin/Methotrexate Syndrome Retinoic Acid[geneeskundeboek.nl]

  • Acromesomelic Chondrodysplasia with Genital Anomalies

    Enviornmental Agents Fetal Alcohol Syndrome Fetal Hydantoin Syndrome Fetal Valproate Syndrome Fetal Warfarin Syndrome Fetal Aminopterin/Methotrexate Syndrome Retinoic Acid[worldcat.org] CHONDRODYSPLASIA PUNCTATA (1-3) Chondrodysplasia punctata refers to a heterogeneous group of conditions which share craniofacial dysmorphism and joint contactures and can[fetalultrasound.com] Introduction Rhizomelic Chondrodysplasia Punctata (RCDP) is one subdivision of group of anomalies called Chondrodysplasia calcificans punctata (CCP), which is a rare congenital[ispub.com]

Further symptoms

Similar symptoms