Disease #04179 (AOS (Adams-Oliver syndrome (AOS)))

Official abbreviation AOS
Name Adams-Oliver syndrome (AOS)
OMIM ID -
Inheritance -
Individuals reported having this disease 61
Phenotype entries for this disease 61
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2015-02-07 15:59:17 +01:00 (CET)
Date last edited 2015-03-13 12:45:54 +01:00 (CET)


Individuals

61 entries on 1 page. Showing entries 1 - 61.
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00029772 - PubMed: Shaheen 2011 5-generation family, unaffected carrier parents, has affected niece (PatV12) F yes Saudi Arabia Arab >00y11m - - - AOS scalp defect; TTLD of hands and feet; ventricular dilatation / brain atrophy; periventricular lesions (calcification, gliosis); microcephaly; optic atrophy; severe ID; seizures / epilepsy; cerebral palsy / spasticity DOCK6 DOCK6 1 1 Maja Sukalo
00029773 - PubMed: Shaheen 2011 4-generation family, unaffected carrier parents F yes Saudi Arabia Arab >03y06m - - - AOS scalp defect; TTLD of hands and feet; microcephaly; developmental delay; DOCK6 DOCK6 1 1 Maja Sukalo
00029774 - PubMed: Shaheen 2013 4-generation family, unaffected carrier parents; brother of #00029774 M yes (Saudi Arabia) Arab? >01y00m - - - AOS scalp defect; TTLD of hands and feet; aortic valve dysplasia; ventricular dilatation / brain atrophy; periventricular lesions (calcification, gliosis); abdominal skin defect; DOCK6 DOCK6 1 2 Maja Sukalo
00029775 - PubMed: Shaheen 2013 4-generation family, unaffected carrier parents; sister of #00029773 F yes (Saudi Arabia) Arab? ? - - - AOS scalp defects; TTLD of hands and feet; ventricular dilatation / brain atrophy; periventricular lesions (calcification, gliosis); seizures / epilepsy; gastroschisis; DOCK6, EOGT DOCK6 1 1 Maja Sukalo
00029776 - PubMed: Shaheen 2013 4-generation family, unaffected carrier parents, 2 affected sisters F yes (Saudi Arabia) Arab? >02y00m - - - AOS scalp defect; TTLD of hands and feet; periventricular lesions (calcification, gliosis); pachygyria; optic atrophy; seizures / epilepsy; DOCK6 DOCK6 1 2 Maja Sukalo
00029777 - PubMed: Lehman 2014 2-generation family, unaffected carrier parents F no - Northern European >02y00m - - - AOS IUGR; scalp defect; TTLD of hands and feet; tetralogy of Fallot; persistent left superior vena cava; periventricular lesions (calcification, gliosis); porencephaly; microcephaly; retinal detachment; severe ID; seizures / epilepsy; placental vasculopathy; neonatal thrombocytopenia; small bowel infarction; DOCK6 DOCK6 2 1 Maja Sukalo
00029778 - - - F yes Turkey - >05y00m - - - AOS scalp defect; TTLD of hands and feet; microcephaly; microphthalmia; retinal detachment; vitreous opacities/membranes; anterior chamber abnormality; developmental delay; seizures / epilepsy; high palate; DOCK6 DOCK6 1 1 Maja Sukalo
00029779 - - - M no - - <10y00m - - - AOS scalp defect; TTLD of hands and feet; ventricular dilatation / brain atrophy; corpus callosum hypoplasia/atrophy; microcephaly; ocular anomaly; severe ID; seizures / epilepsy; cerebral palsy / spasticity; CMTC; single umbilical artery; cryptorchidism; DOCK6 DOCK6 2 1 Maja Sukalo
00029780 - - - M yes Turkey - >20y00m - - - AOS IUGR; scalp defect; TTLD of hands and feet; ventricular dilatation / brain atrophy; periventricular lesions (calcification, gliosis); microcephaly; microphthalmia; retinal detachment; anterior chamber abnormality; severe ID; seizures / epilepsy; cerebral palsy / spasticity; CMTC; abdominal skin defect; DOCK6 DOCK6 1 1 Maja Sukalo
00029781 - - - F yes Turkey - >00y03m - - - AOS scalp defect; TTLD of hands and feet; patent ductus arteriosus; ventricular dilatation / brain atrophy; microcephaly; microphthalmia; knee dislocation; DOCK6 DOCK6 1 1 Maja Sukalo
00029782 - PubMed: Prothero 2007 - M yes Afghanistan - >09y00m - - - AOS IUGR; scalp defect; TTLD of hands and feet; ventricular dilatation / brain atrophy; corpus callosum hypoplasia/atrophy; periventricular lesions (calcification, gliosis); microcephaly; microphthalmia; retinal detachment; moderate ID; seizures / epilepsy; cryptorchidism; DOCK6 DOCK6 1 1 Maja Sukalo
00029783 - PubMed: Orstavik 1995 sister of #00029783 F no Norway - ? - - - AOS scalp defect; TTLD of hands and feet; ventricular septal defect; ventricular dilatation / brain atrophy; periventricular lesions (calcification, gliosis); microcephaly; microphthalmia; retinal detachment; vitreous opacities/membranes; severe ID; seizures / epilepsy; cerebral palsy / spasticity; abdominal skin defects; absence of right patella; DOCK6 DOCK6 2 2 Maja Sukalo
00029784 - PubMed: Orstavik 1995 brother of #00029782 M no Norway - 00y00m - - - AOS IUGR; scalp defects; TTLD of hands and feet; ventricular dilatation / brain atrophy; corpus callosum hypoplasia/atrophy; retinal detachment; abdominal skin defect; patella fixed to skin; DOCK6 DOCK6 2 1 Maja Sukalo
00029785 - - sister of #00029785 F no - white >07y00m - - - AOS scalp defect; TTLD of hands and feet; brain anomalies; microcephaly; ocular anomalies; severe ID; seizures / epilepsy; abdominal skin defect; DOCK6 DOCK6 2 2 Maja Sukalo
00029786 - - brother of #00029784 M no - white >08y00m - - - AOS IUGR; TTLD of feet; total anomalous pulmonary venous connection; ocular anomalies; mild ID; hypothyroidism; DOCK6 DOCK6 2 1 Maja Sukalo
00029787 - - - F yes - - ? - - - AOS scalp defect; TTLD of hands and feet; no further data available; DOCK6 DOCK6 1 1 Maja Sukalo
00029788 - - - F yes Morocco - >07y00m - - - AOS scalp defect; TTLD of hands and feet; periventricular lesions (calcification, gliosis); no further data available; DOCK6 DOCK6 1 1 Maja Sukalo
00029789 - - - F yes Morocco - ? - - - AOS scalp defect; TTLD of hands and feet; ventricular dilatation / brain atrophy; corpus callosum hypoplasia/atrophy; periventricular lesions (calcification, gliosis); microcephaly; seizures / epilepsy; DOCK6 DOCK6 1 1 Maja Sukalo
00029791 - PubMed: Shaheen 2013, Journal: Shaheen 2013 4-generation family, 2 affected nephews, unaffected carrier parents M yes Saudi Arabia Arab - - - - AOS see paper; .. DOCK6, EOGT EOGT 1 2 Johan den Dunnen
00029792 - PubMed: Shaheen 2013, Journal: Shaheen 2013 5-generation family, 4 affecteds (3F, 1M), unaffected carrier parents - yes Saudi Arabia Arab - - - - AOS - DOCK6, EOGT EOGT 1 4 Johan den Dunnen
00029801 - PubMed: Hassed 2012, Journal: Hassed 2012 3-generation family, affected father/daugther (III.1) F no United States - - - - - AOS see paper; syndactyly 2nd/3rd toes, otherwise normal, short palpebral fissures, mildly delayed gross motor milestones, microcephaly, aplasia cutis congenita scalp (HP:0007385) RBPJ RBPJ 1 2 Johan den Dunnen
00029802 - PubMed: Hassed 2012, Journal: Hassed 2012 3-generation family, 8 affecteds (4F, 4M), patient II.3 F no United States - - - - - AOS see paper; shortened distal phalanges left hand, bilateral reduction toes, no intellectual disability RBPJ RBPJ 1 8 Johan den Dunnen
00029803 - PubMed: Southgate 2011, Journal: Southgate 2011 21565291-Fam2PatII3 5-generation family, >8 affecteds (5F, 3M), patient III.1 - no United Kingdom (Great Britain) - - - - - AOS see paper; aplasia cutis congenita, bony defect/abnormal fontanelle, terminal transverse limb defects, syndactyly ARHGAP31 ARHGAP31 1 8 Johan den Dunnen
00029804 - PubMed: Southgate 2011, Journal: Southgate 2011 5-generation family, >5 affecteds (4F, M), 1 unaffected carrier - no United Kingdom (Great Britain) - - - - - AOS see paper; aplasia cutis congenita, bony defect/abnormal fontanelle, terminal transverse limb defects, syndactyly ARHGAP31 ARHGAP31 1 5 Johan den Dunnen
00032397 - PubMed: Shaheen 2013, Journal: Shaheen 2013 4-generation family, 2 affecteds, unaffected heterozygus carrier parents F yes Saudi Arabia Arab - - - - AOS see paper; .. EOGT EOGT 1 2 Johan den Dunnen
00034059 - - cohort of 70 families from Germany, Belgium, UK - - - (Europe) - - - - AOS - DOCK6 DOCK6 1 1 Maja Sukalo
00034062 - - cohort of 70 families from Germany, Belgium, UK - - - (Europe) - - - - AOS - DOCK6 DOCK6 1 1 Maja Sukalo
00034063 - - cohort of 70 families from Germany, Belgium, UK - - - (Europe) - - - - AOS - DOCK6 DOCK6 1 1 Maja Sukalo
00034064 - - cohort of 70 families from Germany, Belgium, UK - - - (Europe) - - - - AOS - DOCK6 DOCK6 1 2 Maja Sukalo
00034065 - - cohort of 70 families from Germany, Belgium, UK - - - (Europe) - - - - AOS - DOCK6 DOCK6 2 1 Maja Sukalo
00034066 - - cohort of 70 families from Germany, Belgium, UK - - - (Europe) - - - - AOS - DOCK6 DOCK6 1 1 Maja Sukalo
00034067 - - cohort of 70 families from Germany, Belgium, UK - - - (Europe) - - - - AOS - DOCK6 DOCK6 1 1 Maja Sukalo
00034068 - - cohort of 70 families from Germany, Belgium, UK - - - (Europe) - - - - AOS - DOCK6 DOCK6 1 1 Maja Sukalo
00034069 - - cohort of 70 families from Germany, Belgium, UK - - - (Europe) - - - - AOS - DOCK6 DOCK6 1 1 Maja Sukalo
00034070 - - cohort of 70 families from Germany, Belgium, UK - - - (Europe) - - - - AOS - DOCK6 DOCK6 1 1 Maja Sukalo
00034071 - - cohort of 70 families from Germany, Belgium, UK - - - (Europe) - - - - AOS - DOCK6 DOCK6 1 1 Maja Sukalo
00034072 - - cohort of 70 families from Germany, Belgium, UK - - - (Europe) - - - - AOS - DOCK6 DOCK6 1 1 Maja Sukalo
00034073 - - cohort of 70 families from Germany, Belgium, UK - - - (Europe) - - - - AOS - DOCK6 DOCK6 1 1 Maja Sukalo
00034074 - - cohort of 70 families from Germany, Belgium, UK - - - (Europe) - - - - AOS - DOCK6 DOCK6 3 1 Maja Sukalo
00049874 - PubMed: Meester 2015, Journal: Meester 2015 3-generation family, 4 affecteds (3F, M) M no - - - - - - AOS left brachydactyly 3rd4th toes (confirmed by X-ray), normal scalp DLL4 DLL4 1 4 Johan den Dunnen
00049876 - PubMed: Meester 2015, Journal: Meester 2015 2-generation family, 2 affecteds (mother/daugther) F - - - - - - - AOS , aplasia cutis congenita scalp (HP:0007385) DLL4 DLL4 1 3 Johan den Dunnen
00049877 - PubMed: Meester 2015, Journal: Meester 2015 2-generation family, 1 affected, carrier status unaffected parents unknown F - - - - - - - AOS no further details, aplasia cutis congenita scalp (HP:0007385) DLL4 DLL4 1 1 Johan den Dunnen
00049878 - PubMed: Meester 2015, Journal: Meester 2015 4-generation family, 8 affecteds (4F, 4M) F - - - - - - - AOS syndactyly 2nd/3rd toes, hypoplastic toe nails, brachydactyly toes DLL4 DLL4 1 8 Johan den Dunnen
00049879 - PubMed: Meester 2015, Journal: Meester 2015 2-generation family, 2 affecteds (father/son) M - United Kingdom (Great Britain) - - - - - AOS no cardiac problems, no dilatation, aplasia cutis congenita scalp (HP:0007385) DLL4 DLL4 1 2 Johan den Dunnen
00049882 - PubMed: Meester 2015, Journal: Meester 2015 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - AOS short distal phalangus middle finger right hand, symphalangism index finger, symbrachydactyly both feet; truncus arteriosus, ventricular septum defect; growth hormone deficiency, aplasia cutis congenita scalp (HP:0007385) DLL4 DLL4 1 1 Johan den Dunnen
00049883 - PubMed: Meester 2015, Journal: Meester 2015 2-generation family, 1 affected, carrier status unaffected parents unknown M - - - - - - - AOS no further details, aplasia cutis congenita scalp (HP:0007385) DLL4 DLL4 1 1 Johan den Dunnen
00049893 - PubMed: Meester 2015, Journal: Meester 2015 3-generation family, 4 affecteds (3F, M) F no - - - - - - AOS short distal phalanges (not confirmed by X-ray), normal scalp DLL4 DLL4 1 1 Johan den Dunnen
00049894 - PubMed: Meester 2015, Journal: Meester 2015 3-generation family, 4 affecteds (3F, M) F no - - - - - - AOS normal echocardiogram, aplasia cutis congenita scalp (HP:0007385) DLL4 DLL4 1 1 Johan den Dunnen
00049895 - PubMed: Meester 2015, Journal: Meester 2015 3-generation family, 4 affecteds (3F, M) F no - - - - - - AOS brachydactyly, syndactyly 2nd/3rd toes right foot; tricuspid insufficiency, ventricular septum defect, aplasia cutis congenita scalp (HP:0007385) DLL4 DLL4 1 1 Johan den Dunnen
00049896 - PubMed: Meester 2015, Journal: Meester 2015 2-generation family, 2 affected sisters, unaffected carrier father F - - - - - - - AOS ACC with underlying skull defect; brachydactyly left foot, missing toes right foot; normal echocardiogram, aplasia cutis congenita scalp (HP:0007385) DLL4 DLL4 1 1 Johan den Dunnen
00049897 - PubMed: Meester 2015, Journal: Meester 2015 2-generation family, 2 affected sisters, unaffected carrier father F - - - - - - - AOS ACC with underlying skull defect; brachysyndactyly right foot, severe brachysyndactyly left foot; normal echocardiogram; small kidneys, mild hypertension, aplasia cutis congenita scalp (HP:0007385) DLL4 DLL4 1 1 Johan den Dunnen
00049898 - PubMed: Meester 2015, Journal: Meester 2015 2-generation family, 2 affecteds (mother/daugther) F - - - - - - - AOS , aplasia cutis congenita scalp (HP:0007385) DLL4 DLL4 1 1 Johan den Dunnen
00049900 - PubMed: Meester 2015, Journal: Meester 2015 4-generation family, 8 affecteds (4F, 4M) F - - - - - - - AOS bald area on scal, cutis marmorata DLL4 DLL4 1 1 Johan den Dunnen
00049901 - PubMed: Meester 2015, Journal: Meester 2015 4-generation family, 8 affecteds (4F, 4M) F - - - - - - - AOS bald area on scalp; brachydactyly fingers/toes, syndactyly 2nd/3rd toes DLL4 DLL4 1 1 Johan den Dunnen
00049903 - PubMed: Meester 2015, Journal: Meester 2015 4-generation family, 8 affecteds (4F, 4M) M - - - - - - - AOS bald area on scalp - - - 1 Johan den Dunnen
00049904 - PubMed: Meester 2015, Journal: Meester 2015 4-generation family, 8 affecteds (4F, 4M) M - - - - - - - AOS ACC with underlying skull defect, aplasia cutis congenita scalp (HP:0007385) - - - 1 Johan den Dunnen
00049905 - PubMed: Meester 2015, Journal: Meester 2015 4-generation family, 8 affecteds (4F, 4M) M - - - - - - - AOS normal echocardiogram; cutis marmorata, epilepsy, learning difficulties, borderline intellectual function (TIQ 76) at young age, normal IQ at later age; mild periventricular leukomalacia, aplasia cutis congenita scalp (HP:0007385) DLL4 DLL4 1 1 Johan den Dunnen
00049906 - PubMed: Meester 2015, Journal: Meester 2015 4-generation family, 8 affecteds (4F, 4M) M - - - - - - - AOS normal echocardiogram, portal hypertension; esophageal varices splenomegaly, congenital liver fibrosis, aplasia cutis congenita scalp (HP:0007385) - - - 1 Johan den Dunnen
00049907 - PubMed: Meester 2015, Journal: Meester 2015 2-generation family, 2 affecteds (father/son) M - United Kingdom (Great Britain) - - - - - AOS normal echocardiogram, aplasia cutis congenita scalp (HP:0007385) DLL4 DLL4 1 1 Johan den Dunnen
00049908 - PubMed: Meester 2015, Journal: Meester 2015 2-generation family, 1 affected (F), unaffected heterozygous carrier mother F - - - - - - - AOS delayed ossification; hypoplastic toe nails; no cardiac problems; cutis marmorata; 2m-normal chest X-ray, aplasia cutis congenita scalp (HP:0007385) DLL4 DLL4 1 1 Johan den Dunnen
00325873 174014 - - F - Germany - - - - - AOS stroke, abnormal cerebral morphology, leukoencephalopathy, vasculitis, abnormality of lysosomal metabolism, inflammatory arteriopathy, recurrent subcortical infarcts, abnormal cerebral artery morphology, abnormality of the cerebral subcortex, abnormal cellular physiology, abnormality of the cerebral vasculature NOTCH1 NOTCH1 1 1 Andreas Laner
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