The spectrum of upper limb defects varies from radial agenesis and phocomelia to amelia. A meningoencephalocele is constant. The intellectual development. We also briefly compared congenital anomalies associated with nonsyndromic phocomelia with those presented with amelia, another rare. Tetra-amelia syndrome, characterized by the (complete) absence of all four limbs and anomalies involving the cranium and the face (cleft.

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For all other comments, please send your remarks via contact us. Only focokelia written in English can be processed. Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia.

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Phocomelia

The spectrum of upper limb defects varies from radial agenesis and phocomelia to amelia. A meningoencephalocele is constant.

The intellectual development may be normal. Parental consanguinity reported in a family suggests an autosomal recessive pattern of inheritance. Other search option s Alphabetical list. Summary and related texts.

Check this box if you wish to receive a copy of your message. Disease definition Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia focomeloa upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia. DK phocomelia syndrome Phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome Prevalence: InfancyNeonatal ICD Summary Epidemiology Less than 15 cases have been reported.

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Clinical description The spectrum of upper limb defects varies from radial agenesis and phocomelia focomeliz amelia. Etiology Pathogenesis and cause of this syndrome are unknown.

Genetic counseling Parental consanguinity reported in a family suggests an autosomal recessive ofcomelia of inheritance. Detailed information Professionals Summary information Greekpdf Anesthesia guidelines Englishpdf. Additional information Further information on this disease Classification s 2 Gene s 0 Other website s 0. Health care resources for this disease Expert centres Diagnostic tests 7 Patient organisations 19 Orphan drug s 0.

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Amelia (birth defect) – Wikipedia

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