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Items: 10

1.

Cutis laxa-corneal clouding-oligophrenia syndrome

De Barsy syndrome, or autosomal recessive cutis laxa type III (ARCL3), is characterized by cutis laxa, a progeria-like appearance, and ophthalmologic abnormalities (summary by Kivuva et al., 2008). Genetic Heterogeneity of de Barsy Syndrome Also see ARCL3B (614438), caused by mutation in the PYCR1 gene (179035) on chromosome 17q25. For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see 219100. [from OMIM]

MedGen UID:
82794
Concept ID:
C0268354
Congenital Abnormality; Disease or Syndrome
2.

Cutis laxa

Wrinkled, redundant, inelastic and sagging skin. [from HPO]

MedGen UID:
8206
Concept ID:
C0010495
Disease or Syndrome
3.

Distinctive facial features

MedGen UID:
833083
Concept ID:
CN228801
Finding
4.

Adducted thumb

In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger. [from HPO]

MedGen UID:
767531
Concept ID:
C3554617
Finding
5.

Opacification of the corneal stroma

Reduced transparency of the stroma of cornea. [from HPO]

MedGen UID:
602191
Concept ID:
C0423250
Finding
6.

Overlapping fingers

A finger resting on the dorsal surface of an adjacent digit when the hand is at rest. [from HPO]

MedGen UID:
506383
Concept ID:
CN009386
Finding
7.

Athetosis

Athetosis (from the Greek word for 'changeable' or 'unfixed') refers to an inability to sustain the muscles of the fingers, toes, tongue, or any other group of muscles in a fixed position. Instead, posture is interrupted by slow, purposeless involuntary movements. [from HPO]

MedGen UID:
505190
Concept ID:
CN002093
Finding
8.

Opacification of the corneal stroma

MedGen UID:
347281
Concept ID:
C1856661
Finding
9.

Blue sclerae

MedGen UID:
342813
Concept ID:
C1853175
Finding
10.

Adducted thumb

MedGen UID:
321896
Concept ID:
C1832151
Finding
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