Disease #00372 (CED (dysplasia, cranioectodermal (CED, Sensenbrenner syndrome)))

Official abbreviation CED
Name dysplasia, cranioectodermal (CED, Sensenbrenner syndrome)
OMIM ID -
Inheritance -
Individuals reported having this disease 10
Phenotype entries for this disease 7
Associated with 2 genes IFT43, WDR35
Associated tissues -
Disease features -
Remarks -
Date created 2014-05-02 09:56:43 +02:00 (CEST)
Date last edited 2015-12-07 07:11:25 +01:00 (CET)


Individuals

10 entries on 1 page. Showing entries 1 - 10.
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00016535 - PubMed: Bredrup 2011 - F ? Norway ? - - - - CED - WDR19 WDR19 2 1 Heleen Arts
00016536 - PubMed: Bredrup 2011 - M ? Norway ? - - - - CED - WDR19 WDR19 2 1 Heleen Arts
00095096 - - - - no - - - - - - CED Cranioectodermal dysplasia-1 (CED1) - IFT122 2 1 Karen Stals
00108617 JWS_CED_2017_1 - - M no Poland Polish - - - - CED Craniosynostosis sagittal (HPO:000442), Craniosynostosis coronal (HPO:000440), Dolichocephaly (HPO: ), Nephronophthisis (HPO:000090), Sate 2 chronic kidney disease (HPO:0012624), short limbs (HPO:0009826), Narrow thorax (HPO:0000774), Brachydactyly (HPO:0001156), Abnormal teeth (HPO:0000164), Everted lower lip (HPO:0000233), Epicanthic folds (HPO:0000286) WDR35 WDR35 2 1 Joanna Walczak-Sztulpa
00295963 CED_2020_1p - - M no Poland - - - 3.5 - CED - - - - 2 Joanna Walczak-Sztulpa
00300258 Fa,P05-101PatII1 PubMed: Arts 2011 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F yes Morocco - - - - - CED no dolichocephaly/scaphocephaly; no craniosynostosis; no frontal bossing; no macrocephaly; no telecanthus; no everted lower lip; no micrognathia; hypoplastic teeth; widely spaced teeth; short broad nails; fine hair; no skin laxity; dry skin; narrow thorax; no pectus excavatum; short humeri; brachydactyly; webbing of fingers; no postaxial polydactyly; restricted flexion of fingers; syndactyly of 2-3-4 toes; no bilateral sandal gap; joint laxity; nephronophthisis; no liver disease; no heart disease; no neurological findings; no recurrent lung infections, normal intelligence; height 112 cm (-2.5 SD) IFT43 IFT43 1 2 Johan den Dunnen
00300259 FamP05-1040PatII2 PubMed: Arts 2011 brother M yes Morocco - - - - - CED scaphocephaly; sagittal suture synostosis; frontal bossing; no macrocephaly; telecanthus; everted lower lip; micrognathia; hypoplastic teeth; widely spaced teeth; short broad nails; sparse hair, fine hair; skin laxity; dry skin; narrow thorax; no pectus excavatum; bowing of humeri; brachydactyly; webbing of fingers; bilateral postaxial polydactyly feet, bilateral postaxial polydactyly hands; no restricted flexion of fingers; syndactyly of 2-3 and 5-6 toes; bilateral sandal gap; joint laxity; nephronophthisis, 3y-end-stage renal disease; neonatal cholestasis, liver cirrhosi; peripheral pulmonary stenosis; no neurological findings; no recurrent lung infections; normal intelligence; height 91 cm (<<-2.5 SD) IFT43 IFT43 1 1 Johan den Dunnen
00359412 03149 - - F ? Argentina - - - - - CED - - WDR19 1 1 Maria Dora Jazmin Lacarrubba-Flores
00359414 03149 - - F no Brazil - - - - - CED - - WDR19 1 1 Maria Dora Jazmin Lacarrubba-Flores
00359415 03149 - - F no Brazil - - - - - CED - - WDR19 1 1 Maria Dora Jazmin Lacarrubba-Flores
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