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Items: 10

1.

Leri-Weill dyschondrosteosis

The phenotypic spectrum of SHOX deficiency disorders, caused by haploinsufficiency of the short stature homeobox-containing gene (SHOX), ranges from Leri-Weill dyschondrosteosis (LWD) at the severe end of the spectrum to nonspecific short stature at the mild end of the spectrum. In adults with SHOX deficiency, the proportion of LWD versus short stature without features of LWD is not well defined. In LWD the classic clinical triad is short stature, mesomelia, and Madelung deformity. Mesomelia, in which the middle portion of a limb is shortened in relation to the proximal portion, can be evident first in school-aged children and increases with age in frequency and severity. Madelung deformity (abnormal alignment of the radius, ulna, and carpal bones at the wrist) typically develops in mid-to-late childhood and is more common and severe in females. The phenotype of short stature caused by SHOX deficiency in the absence of mesomelia and Madelung deformity (called SHOX-deficient short stature in this GeneReview) is highly variable, even within the same family. [from GeneReviews]

MedGen UID:
75562
Concept ID:
C0265309
Disease or Syndrome
2.

Metachondromatosis

Metachondromatosis is characterized by exostoses (osteochondromas), commonly of the hands and feet, and enchondromas of long bone metaphyses and iliac crests (summary by Sobreira et al., 2010). [from OMIM]

MedGen UID:
98377
Concept ID:
C0410530
Disease or Syndrome
3.

Exostoses, multiple, type 2

Hereditary multiple osteochondromas (HMO), previously called hereditary multiple exostoses (HME), is characterized by growths of multiple osteochondromas, benign cartilage-capped bone tumors that grow outward from the metaphyses of long bones. Osteochondromas can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature, premature osteoarthrosis, and compression of peripheral nerves. The median age of diagnosis is three years; nearly all affected individuals are diagnosed by age 12 years. The risk for malignant degeneration to osteochondrosarcoma increases with age, although the lifetime risk for malignant degeneration is low (~2%-5%). [from GeneReviews]

MedGen UID:
377018
Concept ID:
C1851413
Disease or Syndrome
4.

Multiple congenital exostosis

Hereditary multiple osteochondromas (HMO), previously called hereditary multiple exostoses (HME), is characterized by growths of multiple osteochondromas, benign cartilage-capped bone tumors that grow outward from the metaphyses of long bones. Osteochondromas can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature, premature osteoarthrosis, and compression of peripheral nerves. The median age of diagnosis is three years; nearly all affected individuals are diagnosed by age 12 years. The risk for malignant degeneration to osteochondrosarcoma increases with age, although the lifetime risk for malignant degeneration is low (~2%-5%). [from GeneReviews]

MedGen UID:
4612
Concept ID:
C0015306
Congenital Abnormality
5.

Potocki-Shaffer syndrome

Potocki-Shaffer syndrome is a rare contiguous gene deletion syndrome due to haploinsufficiency of the 11p12-p11.2 region and is characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses (168500), and biparietal foramina (609597) (summary by Swarr et al., 2010). [from OMIM]

MedGen UID:
318657
Concept ID:
C1832588
Disease or Syndrome
6.

Exostoses, multiple, type III

MedGen UID:
333090
Concept ID:
C1838420
Disease or Syndrome
7.

Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome

For a detailed discussion of the WAGR syndrome, see 194072. In a subgroup of individuals with the WAGR syndrome, obesity develops. The phenotype in this subset is associated with haploinsufficiency for the BDNF gene. [from OMIM]

MedGen UID:
382718
Concept ID:
C2675904
Disease or Syndrome
8.

Multiple exostoses with spastic tetraparesis

MedGen UID:
371889
Concept ID:
C1834724
Disease or Syndrome
9.

Polyposis, intestinal, with multiple exostoses

MedGen UID:
401357
Concept ID:
C1868005
Neoplastic Process
10.

Exostoses-anetodermia-brachydactyly type E syndrome

An association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985. [from ORDO]

MedGen UID:
338695
Concept ID:
C1851428
Disease or Syndrome
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