Orphanet: Search by disease name
x

Search for a rare disease

* (*) mandatory field

Other search option(s)

14 Result(s)

ORPHA:228285   (Disorder)   Acquired cutis laxa

More information

Synonym(s) : Cutis laxa acquisita

ORPHA:90348   (Disorder)   Autosomal dominant cutis laxa

More information
ORPHA:90349   (Disorder)   Autosomal recessive cutis laxa type 1

More information

Synonym(s) : Autosomal recessive cutis laxa, pulmonary emphysema type ; Autosomal recessive cutis laxa with severe systemic involvement

Keyword(s) : Autosomal recessive cutis laxa type 1A ; Autosomal recessive cutis laxa type 1B

ORPHA:90350   (Group of disorders)   Autosomal recessive cutis laxa type 2

More information

Synonym(s) : Cutis laxa with joint laxity and developmental delay

ORPHA:357074   (Subtype of disorder)   Autosomal recessive cutis laxa type 2, classic type

More information

Synonym(s) : Autosomal recessive cutis laxa type 2, Debré type

ORPHA:357064   (Disorder)   Autosomal recessive cutis laxa type 2B

More information

Synonym(s) : Autosomal recessive cutis laxa type 2, progeroid type

ORPHA:209   (Group of disorders)   Cutis laxa

More information
ORPHA:221145   (Disorder)   Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

More information

Synonym(s) : Autosomal recessive cutis laxa type 1C

ORPHA:171719   (Disorder)   Cutis laxa-Marfanoid syndrome

More information
ORPHA:2962   (Disorder)   De Barsy syndrome

More information

Synonym(s) : Cutis laxa-corneal clouding-intellectual disability syndrome

ORPHA:1659   (Disorder)   Dermatoleukodystrophy

More information

Synonym(s) : Cutis laxa-leukodystrophy

ORPHA:198   (Disorder)   Occipital horn syndrome

More information

Synonym(s) : X-linked cutis laxa

ORPHA:217335   (Disorder)   RIN2 syndrome

More information

Synonym(s) : Macrocephaly-alopecia-cutis laxa-scoliosis syndrome