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Items: 3

1.

X-linked spondyloepimetaphyseal dysplasia

X-linked spondyloepimetaphyseal dysplasia (SEMDX) is characterized by anomalies of the spine and the epiphyses and metaphyses of the long bones, resulting in short stature and osteoarthritic changes of the joints. Patients with SEMDX show rhizomelic shortening of the limbs and short limb-to-trunk ratio, significant bowing of the legs, waddling gait with lumbar lordosis, and brachydactyly (Cho et al., 2016). [from OMIM]

MedGen UID:
376281
Concept ID:
C1848097
Disease or Syndrome
2.

Autosomal dominant omodysplasia

Omodysplasia-2 (OMOD2) is a rare autosomal dominant skeletal dysplasia characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies (Saal et al., 2015). For a discussion of genetic heterogeneity of OMOD, see 258315. [from OMIM]

MedGen UID:
413823
Concept ID:
C2750355
Disease or Syndrome
3.

Anterior wedging of T11

An abnormality of the shape of the thoracic vertebra T11 such that it is wedge-shaped (narrow towards the front). [from HPO]

MedGen UID:
867290
Concept ID:
C4021652
Anatomical Abnormality
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