Disease #00949 (craniosynost. (craniosynostosis, nonspecific))

Official abbreviation craniosynost.
Name craniosynostosis, nonspecific
OMIM ID -
Inheritance Autosomal recessive
Individuals reported having this disease 14
Phenotype entries for this disease 14
Associated with 1 gene FGFR2
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

14 entries on 1 page. Showing entries 1 - 14.
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00063258 27158814-Fam2PatIII1 PubMed: Goos 2016, {DOI:Goos 2016:PMID:10.1002/humu.23010} - F no Netherlands white - - - - craniosynost. bicoronal suture synostosis myopia divergent growth pattern and crowding of teeth normal development - TCF12 1 3 Jacqueline Goos
00063259 - PubMed: Goos 2016, {DOI:Goos 2016:PMID:10.1002/humu.23010} - M no Netherlands white - - - - craniosynost. Fusion of all calvarial sutures (except metopic) Increased intracranial pressure TC2N TCF12 1 2 Jacqueline Goos
00063260 - PubMed: Goos 2016, {DOI:Goos 2016:PMID:10.1002/humu.23010} - M no Netherlands white - - - - craniosynost. Bicoronal suture synostosis Small ears with prominent crura Marked bilateral 5th finger clinodactyly Class II.1 dental malocclusion Normal development TCF12 TCF12 1 2 Jacqueline Goos
00154400 127978 - - M ? (Iraq) jesidic - - - - craniosynost. Craniosynostosis, Low anterior hairline, Long eyelashes, Wide nose, Restlessness, Expressive language delay, Receptive language delay, Global developmental delay, Obesity COL1A1 COL1A1 1 1 Andreas Laner
00375537 - Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis - F yes (Turkey) - - - - - craniosynost. craniosynostosis, metopic suture - FUZ 1 2 Jacqueline Goos
00399853 Fam1Pat7081 PubMed: Calpena 2022 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - craniosynost. see paper; ..., craniosynostosis; severe branchio-otic syndrome; affected sutures sgittal, lambdoid (left, right); speech/language delay, ear pits/tags, unilateral neck sinus, sensorineural hearing loss - SIX1 1 1 Johan den Dunnen
00399854 Fam2Pat163567 PubMed: Calpena 2022 2-generation family, 1 affected, unaffected heterozygous carrier father M - - - - - - - craniosynost. see paper; ..., craniosynostosis; no branchio-otic syndrome; affected sutures sgittal; borderline short stature, mild anteverted nares - SIX1 1 1 Johan den Dunnen
00399855 Fam3PatF8566-1 (twin 1) PubMed: Calpena 2022 4-generation family, 6 affected (2F, 4M), affected heterozygous carrier mother M - - - - - - - craniosynost. see paper; ..., craniosynostosis; severe branchio-otic syndrome; affected sutures sgittal, lambdoid (left, right); branchial fistula - SIX1 1 6 Johan den Dunnen
00399856 Fam3PatF8552-1 (twin 2) PubMed: Calpena 2022 twin brother M - - - - - - - craniosynost. see paper; ..., craniosynostosis; severe branchio-otic syndrome; affected sutures coronal (left, right), sagittal; branchial fistula, restricted growth, posterior urethral valves - SIX1 1 1 Johan den Dunnen
00399857 Fam4PatL112-1 PubMed: Calpena 2022 4-generation family, 4 affected (F, 3M), unaffected heterozygous carrier mother M - - - - - - - craniosynost. see paper; ..., craniosynostosis; severe branchio-otic syndrome; affected sutures sgittal, lambdoid (left, right); mild conductive hearing loss, unilateral branchial cyst/fistula - SIX1 1 4 Johan den Dunnen
00399858 Fam5Pat5692 PubMed: Calpena 2022 2-generation family, 1 affected, unaffected heterozygous carrier mother F - - Asia - - - - craniosynost. see paper; ..., craniosynostosis; no branchio-otic syndrome; affected sutures sgittal, lambdoid (left, right) - SIX1 1 1 Johan den Dunnen
00399859 Fam6Pat1140 PubMed: Calpena 2022 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - craniosynost. see paper; ..., craniosynostosis; mild branchio-otic syndrome; affected sutures sgittal; preauricular pits - SIX1 1 1 Johan den Dunnen
00399860 Fam7Pat4531 PubMed: Calpena 2022 2-generation family, affected son/father M - - - - - - - craniosynost. see paper; ..., craniosynostosis; mild branchio-otic syndrome; affected sutures sgittal; occult bilateral branchial cysts - SIX1 1 1 Johan den Dunnen
00449719 Individual 3 - - ? ? ? (unknown) - - - - - craniosynost. dystrophic toenail, hypotelorism, intrauterine growth retardation, moderate global developmental delay, postnatal microcephaly and recurrent infections ERF ERF 1 1 Carmela Fusco
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