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Orofaciodigital syndrome information


Orofaciodigital syndrome
Other namesOrofaciodigital syndrome
Tongue in orofaciodigital syndrome
SpecialtyRheumatology, medical genetics Edit this on Wikidata

Orofaciodigital syndrome or oral-facial-digital syndrome is a group of at least 13 related conditions that affect the development of the mouth, facial features, and digits in between 1 in 50,000 to 250,000 newborns with the majority of cases being type I (Papillon-League-Psaume syndrome).[1]

  1. ^ "Oral-facial-digital syndrome - Genetics Home Reference".

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Orofaciodigital syndrome

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Orofaciodigital syndrome or oral-facial-digital syndrome is a group of at least 13 related conditions that affect the development of the mouth, facial...

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Orofaciodigital syndrome 1

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Orofaciodigital syndrome 1 (OFD1), also called Papillon-Léage and Psaume syndrome, is an X-linked congenital disorder characterized by malformations of...

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List of syndromes

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syndrome Oral mite anaphylaxis Oral-facial-digital syndrome Orbital apex syndrome Organic brain syndrome Organic dust toxic syndrome Orofaciodigital syndrome...

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Tongue splitting

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with maternal diabetes, orofaciodigital syndrome 1, Ellis–Van Creveld syndrome, Goldenhar syndrome, and Klippel–Feil syndrome. Deliberate tongue splitting...

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Hyperdontia

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Ehlers–Danlos syndrome Type III, Ellis–van Creveld syndrome, Gardner's syndrome, Goldenhar syndrome, Hallermann–Streiff syndrome, Orofaciodigital syndrome type...

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Trigonocephaly

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dysostosis-microcephaly syndrome MEGF8-related Carpenter syndrome Microcephaly, primary autosomal dominant Mucolipidosis type II Orofaciodigital syndrome type 14 Paris-Trousseau...

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Clinodactyly

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Lange syndrome Orofaciodigital syndrome 1 13q deletion syndrome XXYY syndrome Silver–Russell syndrome Andersen-Tawil syndrome Noonan syndrome Ehlers–Danlos...

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OFD

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Department Ogof Ffynnon Ddu, an extensive cave system in South Wales Orofaciodigital syndrome One Fine Day (U.S. TV series), a 2007–2008 American Internet Protocol...

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List of skin conditions

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(Delleman–Oorthuys syndrome) Oculodentodigital dysplasia Odonto–Tricho–Ungual–Digital–Palmar syndrome Oliver–McFarlane syndrome Orofaciodigital syndrome Pachydermoperiostosis...

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Ciliopathy

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disease, nephronophthisis, Senior–Løken syndrome type 5, orofaciodigital syndrome type 1 and Bardet–Biedl syndrome. Adams M, Smith UM, Logan CV, Johnson...

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Micrognathism

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Ogden syndrome Orofacial cleft 13 Orofacial-digital syndrome IV Orofaciodigital syndrome types 6 and 14 Osteogenesis imperfecta types 3, 10, 12, and 18...

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Basal body

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diseases, including Bardet–Biedl syndrome, orofaciodigital syndrome, Joubert syndrome, cone-rod dystrophy, Meckel syndrome, and nephronophthisis. Regulation...

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Acrocallosal syndrome

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syndrome, orofaciodigital syndrome types I and II, Meckel–Gruber syndrome, Smith–Lemli–Opitz syndrome, Rubinstein–Taybi syndrome, Cockayne syndrome,...

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Sugarman syndrome

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Sugarman syndrome is the common name of autosomal recessive oral-facial-digital syndrome type III, one of ten distinct genetic disorders that involve...

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Autosomal recessive cerebellar ataxia

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hepatic defect Orofaciodigital syndrome type 6 Joubert syndrome with ocular defect Joubert syndrome with renal defect Joubert syndrome with Jeune asphyxiating...

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Acrocephalosyndactyly

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Crouzon-Pfeiffer syndrome. Acrocephalosyndactyly type IV was formerly called Mohr Syndrome, however, it was later classified under Orofaciodigital syndrome type II...

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Glomerulocystic kidney disease

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cystic kidney disease Jeune syndrome Nephronophthisis Meckel–Gruber syndrome Orofaciodigital syndrome Zellweger syndrome In addition, GCKD can be a component...

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Syndromic microphthalmia

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Syndromic microphthalmia is a class of rare congenital anomalies characterized by microphthalmia along with other non-ocular malformations. Syndromic...

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List of genes mutated in cutaneous conditions

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Ehlers–Danlos syndrome COL5A2 Collagen type 5 Classic variant of Ehlers–Danlos syndrome CTNNB1 Beta-catenin Pilomatricoma CX0RF5 Orofaciodigital syndrome CYLD...

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OFD1

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chromosomal rearrangements.[supplied by OMIM] Orofaciodigital syndrome 1 Simpson–Golabi–Behmel syndrome GRCh38: Ensembl release 89: ENSG00000046651 –...

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