Disease #04332 (DBS;ADCL (De Barsy syndrome (DBS, cutis laxa, autosomal dominant (ADCL))))

Official abbreviation DBS;ADCL
Name De Barsy syndrome (DBS, cutis laxa, autosomal dominant (ADCL))
OMIM ID -
Inheritance -
Individuals reported having this disease 8
Phenotype entries for this disease 8
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2015-09-15 08:14:45 +02:00 (CEST)
Date last edited 2015-12-08 23:59:30 +01:00 (CET)


Individuals

8 entries on 1 page. Showing entries 1 - 8.
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00049909 - PubMed: Fischer-Zirnsak 2015, Journal: Fischer-Zirnsak 2015 2-generation family, 1 affected, unaffected non-carrier parents/sibs M - Jordan - >02y06m - - - DBS;ADCL initial diagnosis wrinkly skin syndrome (WSS); thin translucent skin, hip dislocation?, adducted thumb, no osteopenia, Wormian bones?, no brain anomalies, no cranial vessel tortuosity, autism?, no brisk reflexes; normal face ALDH18A1, PYCR1 ALDH18A1 1 1 Johan den Dunnen
00049913 - PubMed: Fischer-Zirnsak 2015, Journal: Fischer-Zirnsak 2015 2-generation family, 1 affected, unaffected non-carrier parents/sibs M - Finland - >02y11m - - - DBS;ADCL initial diagnosis De Barsy syndrome (DBS); thin translucent skin, hip dislocation, adducted thumb, osteopenia, Wormian bones, brain anomalies, no cranial vessel tortuosity, autism?, brisk reflexes, foramen magnum stenosis; dysmorphic face (HP:0001999) ALDH18A1, PYCR1 ALDH18A1 1 1 Johan den Dunnen
00049914 - PubMed: Fischer-Zirnsak 2015, Journal: Fischer-Zirnsak 2015 2-generation family, 1 affected, unaffected non-carrier parents/sibs M - Netherlands - >02y - - - DBS;ADCL initial diagnosis De Barsy syndrome (DBS); thin translucent skin, no hip dislocation, no adducted thumb, no osteopenia, Wormian bones, no brain anomalies, cranial vessel tortuosity, autism, brisk reflexes, oramen magnum stenosis, shallow sella turcica; dysmorphic face (HP:0001999) ALDH18A1, PYCR1 ALDH18A1 1 1 Johan den Dunnen
00049915 - PubMed: Fischer-Zirnsak 2015, Journal: Fischer-Zirnsak 2015 2-generation family, 1 affected, unaffected non-carrier parents F - United States - >06y - - - DBS;ADCL initial diagnosis connective tissue disorder; thin translucent skin, no hip dislocation, no adducted thumb, no osteopenia, no Wormian bones, no brain anomalies, cranial vessel tortuosity, no autism, brisk reflexes?, os odontoideum, disharmonic bone age; dysmorphic face (HP:0001999) ALDH18A1, PYCR1 ALDH18A1 1 1 Johan den Dunnen
00049916 - PubMed: Fischer-Zirnsak 2015, Journal: Fischer-Zirnsak 2015 2-generation family, 1 affected, unaffected non-carrier parents/sibs M - Mexico - >04y - - - DBS;ADCL initial diagnosis De Barsy syndrome (DBS); thin translucent skin, hip dislocation, adducted thumb, osteopenia, no Wormian bones, no brain anomalies, no cranial vessel tortuosity, autism?, brisk reflexes; dysmorphic face (HP:0001999) ALDH18A1, PYCR1 ALDH18A1 1 1 Johan den Dunnen
00049917 - PubMed: Fischer-Zirnsak 2015, Journal: Fischer-Zirnsak 2015 2-generation family, 1 affected, unaffected non-carrier parents/sibs M - United Arab Emirates - >13y - - - DBS;ADCL initial diagnosis De Barsy syndrome (DBS); thin translucent skin, hip dislocation, adducted thumb, no osteopenia, no Wormian bones, brain anomalies?, no cranial vessel tortuosity, autism?, brisk reflexes?; dysmorphic face (HP:0001999) ALDH18A1, PYCR1 ALDH18A1 1 1 Johan den Dunnen
00049918 - PubMed: Fischer-Zirnsak 2015, Journal: Fischer-Zirnsak 2015 2-generation family, 1 affected, unaffected non-carrier parents/sibs F - United States - >03y - - - DBS;ADCL initial diagnosis De Barsy syndrome (DBS); thin translucent skin, hip dislocation, no adducted thumb, osteopenia?, no Wormian bones, no brain anomalies, cranial vessel tortuosity, autism?, no brisk reflexes; dysmorphic face (HP:0001999) ALDH18A1, PYCR1 ALDH18A1 1 1 Johan den Dunnen
00049919 - PubMed: Fischer-Zirnsak 2015, Journal: Fischer-Zirnsak 2015 2-generation family, 1 affected, unaffected non-carrier parents/sibs M - United States - >03y - - - DBS;ADCL initial diagnosis cutis laxa; thin translucent skin, hip dislocation, adducted thumb, osteopenia, no Wormian bones, no brain anomalies, cranial vessel tortuosity, no autism, no brisk reflexes; dysmorphic face (HP:0001999) ALDH18A1, PYCR1 ALDH18A1 1 1 Johan den Dunnen
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