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Items: 9

1.

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis

SOFT syndrome is characterized by severely short long bones, peculiar facies associated with paucity of hair, and nail anomalies. Growth retardation is evident on prenatal ultrasound as early as the second trimester of pregnancy, and affected individuals reach a final stature consistent with a height age of 6 years to 8 years. Relative macrocephaly is present during early childhood but head circumference is markedly low by adulthood. Psychomotor development is normal. Facial dysmorphism includes a long, triangular face with prominent nose and small ears, and affected individuals have an unusual high-pitched voice. Clinodactyly, brachydactyly, and hypoplastic distal phalanges and fingernails are present in association with postpubertal sparse and short hair. Typical skeletal findings include short and thick long bones with mild irregular metaphyseal changes, short femoral necks, and hypoplastic pelvis and sacrum. All long bones of the hand are short, with major delay of carpal ossification and cone-shaped epiphyses. Vertebral body ossification is also delayed (summary by Sarig et al., 2012). [from OMIM]

MedGen UID:
762199
Concept ID:
C3542022
Disease or Syndrome
2.

Myopericytoma

A usually slow growing, subcutaneous nodular neoplasm arising from myopericytes. It is composed of myoid cells arranged in a perivascular growth pattern. The vast majority of cases have a benign clinical course. [from NCI]

MedGen UID:
224912
Concept ID:
C1302808
Neoplastic Process
3.

Myofibroma

A benign tumor that consists chiefly of fibrous CONNECTIVE TISSUE, with variable numbers of MUSCLE CELLS forming portions of the neoplasm (From Stedman's, 27th ed). [from MeSH]

MedGen UID:
220420
Concept ID:
C1266121
Neoplastic Process
4.

Glomangioma

A morphologic variant of the glomus tumor characterized by the presence of dilated veins, surrounded by small clusters of glomus cells. Glomangiomas are most often present in patients with multiple lesions. [from NCI]

MedGen UID:
87239
Concept ID:
C0334421
Neoplastic Process
5.

Angioleiomyoma

A benign tumor consisting of vascular and smooth muscle elements. [from MeSH]

MedGen UID:
60202
Concept ID:
C0206653
Neoplastic Process
6.

Glomuvenous malformations

Glomuvenous malformations, also known as 'venous malformations with glomus cells' or glomangiomas, are similar to mucocutaneous venous malformations (VMCM; 600195), but clinically are distinguishable: they have a cobble-stone appearance, have a consistency harder than that of venous malformations, and are painful on palpation. Histologically, GVMs are distinguishable by the presence of pathognomonic rounded cells (glomus cells) around the distended vein-like channels. The term glomus (Latin for ball) stems from the morphologically similar contractile cells of the Sucquet-Hoyer arteriovenous anastomoses in glomus bodies that are involved in cutaneous thermoregulation. Glomus cells in GVMs appear to be incompletely or improperly differentiated vascular smooth muscle cells, since they stain positively with smooth muscle cell alpha-actin (102620) and vimentin (193060) (summary by Brouillard et al., 2002). The genetic distinctness of glomuvenous malformations from mucocutaneous venous malformations is indicated by the fact that mutations have been found in the TIE2/TEK gene (600221) in mucocutaneous venous malformations and not in glomuvenous malformations. [from OMIM]

MedGen UID:
374834
Concept ID:
C1841984
Disease or Syndrome
7.

Myofibroma

A benign, localized, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma. [from NCI]

MedGen UID:
234574
Concept ID:
C1368237
Neoplastic Process
8.

Benign Hemangiopericytoma

A benign neoplasm originating from vascular pericytes (cells in the periphery of vessels). [from NCI]

MedGen UID:
137781
Concept ID:
C0334541
Neoplastic Process
9.

Hemangiopericytoma, malignant

An uncommon malignant neoplasm arising from pericytes. Distinction between benign and malignant hemangiopericytoma may be difficult or even impossible on morphologic grounds alone. [from NCI]

MedGen UID:
90803
Concept ID:
C0334542
Neoplastic Process
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