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Items: 18

1.

FNB1 POLYMORPHISM

MedGen UID:
864497
Concept ID:
C4016060
Finding
2.

Marfan syndrome, autosomal recessive

MedGen UID:
864496
Concept ID:
C4016059
Finding
3.

MARFAN SYNDROME, SUBDIAGNOSTIC VARIANT OF

MedGen UID:
864495
Concept ID:
C4016058
Finding
4.

MARFAN SYNDROME, CLASSIC

MedGen UID:
864494
Concept ID:
C4016057
Finding
5.

Marfan syndrome, mild

MedGen UID:
864493
Concept ID:
C4016056
Finding
6.

Marfan syndrome, atypical

MedGen UID:
864492
Concept ID:
C4016055
Finding
7.

Marfan syndrome, neonatal

MedGen UID:
864491
Concept ID:
C4016054
Finding
8.

Marfan syndrome, mild variable

MedGen UID:
864490
Concept ID:
C4016053
Finding
9.

Marfan syndrome, severe classic

MedGen UID:
864489
Concept ID:
C4016052
Finding
10.

RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE

MedGen UID:
864405
Concept ID:
C4015968
Finding
11.

ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT

MedGen UID:
762106
Concept ID:
C3541518
Disease or Syndrome
12.

Geleophysic dysplasia 2

Geleophysic dysplasia, a progressive condition resembling a lysosomal storage disorder, is characterized by short stature, short hands and feet, progressive joint limitation and contractures, distinctive facial features, progressive cardiac valvular disease, and thickened skin. Intellect is normal. Major findings are likely to be present in the first year of life. Cardiac, respiratory, and lung involvement result in death before age five years in approximately 33% of individuals with geleophysic dysplasia 1. [from GeneReviews]

MedGen UID:
481684
Concept ID:
C3280054
Disease or Syndrome
13.

Weill-Marchesani syndrome 2

Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterized by abnormalities of the lens of the eye, proportionate short stature, brachydactyly, and joint stiffness. The ocular problems, typically recognized in childhood, include microspherophakia (small spherical lens), myopia secondary to the abnormal shape of the lens, ectopia lentis (abnormal position of the lens), and glaucoma, which can lead to blindness. Height of adult males is 142-169 cm; height of adult females is 130-157 cm. Autosomal recessive and autosomal dominant WMS cannot be distinguished by clinical findings alone. [from GeneReviews]

MedGen UID:
358388
Concept ID:
C1869115
Disease or Syndrome
14.

Stiff skin syndrome

Stiff skin syndrome is characterized by hard, thick skin, usually over the entire body, which limits joint mobility and causes flexion contractures. Other occasional findings include lipodystrophy and muscle weakness (Loeys et al., 2010). Patients with similar phenotypes involving stiff skin have been described; see, e.g., familial progressive scleroderma (181750), symmetric lipomatosis (151800), and congenital fascial dystrophy (228020). [from OMIM]

MedGen UID:
348877
Concept ID:
C1861456
Disease or Syndrome
15.

MASS syndrome

MedGen UID:
346932
Concept ID:
C1858556
Disease or Syndrome
16.

Acromicric dysplasia

Acromicric dysplasia is an autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have distinct facial features, including round face, well-defined eyebrows, long eyelashes, bulbous nose with anteverted nostrils, long and prominent philtrum, and thick lips with a small mouth. Other characteristic features include hoarse voice and pseudomuscular build, and there are distinct skeletal features as well, including an internal notch of the femoral head, internal notch of the second metacarpal, and external notch of the fifth metacarpal (summary by Le Goff et al., 2011). Allelic disorders with overlapping skeletal and joint features include geleophysic dysplasia-2 (614185) and the autosomal dominant form of Weill-Marchesani syndrome (608328). [from OMIM]

MedGen UID:
78549
Concept ID:
C0265287
Congenital Abnormality; Disease or Syndrome
17.

Congenital contractural arachnodactyly

Congenital contractural arachnodactyly (CCA) is characterized by a Marfan-like appearance (tall, slender habitus in which arm span exceeds height) and long, slender fingers and toes (arachnodactyly). Most affected individuals have “crumpled” ears that present as a folded upper helix of the external ear and most have contractures of major joints (knees and ankles) at birth. The proximal interphalangeal joints also have flexion contractures (i.e., camptodactyly), as do the toes. Hip contractures, adducted thumbs, and club foot may occur. The majority of affected individuals have muscular hypoplasia. Contractures usually improve with time. Kyphosis/scoliosis is present in about half of all affected individuals. It begins as early as infancy, is progressive, and causes the greatest morbidity in CCA. Dilatation of the aorta is occasionally present. Infants have been observed with a severe/lethal form characterized by multiple cardiovascular and gastrointestinal anomalies in addition to the typical skeletal findings. [from GeneReviews]

MedGen UID:
67391
Concept ID:
C0220668
Congenital Abnormality
18.

Marfan syndrome

Marfan syndrome is a systemic disorder of connective tissue with a high degree of clinical variability. Cardinal manifestations involve the ocular, skeletal, and cardiovascular systems. FBN1 pathogenic variants associate with a broad phenotypic continuum, ranging from isolated features of Marfan syndrome to neonatal presentation of severe and rapidly progressive disease in multiple organ systems. Myopia is the most common ocular feature; displacement of the lens from the center of the pupil, seen in approximately 60% of affected individuals, is a hallmark feature. People with Marfan syndrome are at increased risk for retinal detachment, glaucoma, and early cataract formation. The skeletal system involvement is characterized by bone overgrowth and joint laxity. The extremities are disproportionately long for the size of the trunk (dolichostenomelia). Overgrowth of the ribs can push the sternum in (pectus excavatum) or out (pectus carinatum). Scoliosis is common and can be mild or severe and progressive. The major sources of morbidity and early mortality in the Marfan syndrome relate to the cardiovascular system. Cardiovascular manifestations include dilatation of the aorta at the level of the sinuses of Valsalva, a predisposition for aortic tear and rupture, mitral valve prolapse with or without regurgitation, tricuspid valve prolapse, and enlargement of the proximal pulmonary artery. With proper management, the life expectancy of someone with Marfan syndrome approximates that of the general population. [from GeneReviews]

MedGen UID:
44287
Concept ID:
C0024796
Disease or Syndrome
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