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Items: 3

1.

X-linked spondyloepimetaphyseal dysplasia

A rare genetic primary bone dysplasia disorder with characteristics of disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flared, irregular, cupped metaphyses. [from SNOMEDCT_US]

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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