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Items: 4

1.

Arterial tortuosity syndrome

Arterial tortuosity syndrome (ATS) is characterized by widespread elongation and tortuosity of the aorta and mid-sized arteries as well as focal stenosis of segments of the pulmonary arteries and/or aorta combined with findings of a generalized connective tissue disorder, which may include soft or doughy hyperextensible skin, joint hypermobility, inguinal hernia, and diaphragmatic hernia. Skeletal findings include pectus excavatum or carinatum, arachnodactyly, scoliosis, knee/elbow contractures, and camptodactyly. The cardiovascular system is the major source of morbidity and mortality with increased risk at any age for aneurysm formation and dissection both at the aortic root and throughout the arterial tree, and for ischemic vascular events involving cerebrovascular circulation (resulting in non-hemorrhagic stroke) and the abdominal arteries (resulting in infarctions of abdominal organs). [from GeneReviews]

MedGen UID:
347942
Concept ID:
C1859726
Disease or Syndrome
2.

Facial dysmorphism-immunodeficiency-livedo-short stature syndrome

FILS syndrome is characterized by mild facial dysmorphism, mainly malar hypoplasia, livedo on the skin since birth, immunodeficiency resulting in recurrent infections, and short stature (summary by Pachlopnik Schmid et al., 2012). [from OMIM]

MedGen UID:
767490
Concept ID:
C3554576
Disease or Syndrome
3.

Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome

A rare genetic skin disease characterized by generalized skin peeling, leukonychia, acral punctate keratoses coalescing into focal keratoderma on the weight-bearing areas, angular cheilitis and knuckle pads with multiple hyperkeratotic micropapules. The skin appears dry and scaly with superficial exfoliation and underlying erythema. Histopathologic examination of affected skin areas shows hyperkeratosis, acanthosis and intraepidermal clefting with irregular acantholysis. Additional systemic abnormalities are absent. [from SNOMEDCT_US]

MedGen UID:
902464
Concept ID:
C4225381
Disease or Syndrome
4.

Telangiectases of the cheeks

Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks. [from HPO]

MedGen UID:
767501
Concept ID:
C3554587
Finding
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