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Items: 10

1.

Osteoglophonic dysplasia

Osteoglophonic dysplasia (OGD) is characterized by rhizomelic dwarfism, nonossifying bone lesions, craniosynostosis, prominent supraorbital ridge, and depressed nasal bridge (summary by White et al., 2005). [from OMIM]

MedGen UID:
96592
Concept ID:
C0432283
Congenital Abnormality
2.

Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome

Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal. [from ORDO]

MedGen UID:
338595
Concept ID:
C1849011
Disease or Syndrome
3.

Acromesomelic dysplasia 1, Maroteaux type

The acromesomelic dysplasias are disorders in which there is disproportionate shortening of skeletal elements, predominantly affecting the middle segments (forearms and forelegs) and distal segments (hands and feet) of the appendicular skeleton. Acromesomelic dysplasia-1 (AMD1) is characterized by severe dwarfism (height below 120 cm) with shortening of the middle and distal segments of the limbs. This condition is usually diagnosed at birth and becomes more obvious in the first 2 years of life. X-rays show short broad fingers, square flat feet, and shortening of the long bones (particularly the forearms). The radius is bowed; the ulna is shorter than the radius, and its distal end is occasionally hypoplastic. The skull is dolichocephalic and a shortness of the trunk, with decreased vertebral height and narrowing of the lumbar interpedicular distances, is consistently observed. Facial appearance and intelligence are normal (summary by Faivre et al., 2000). Genetic Heterogeneity of Acromesomelic Dysplasia Additional autosomal recessive forms of acromesomelic dysplasia include acromesomelic dysplasia-2A (200700), -2B (228900), and -2C (201250), all caused by mutation in the GDF5 gene (601146) on chromosome 20q11; AMD3 (200700), caused by mutation in the BMPR1B gene (603248) on chromosome 4q22; and AMD4 (619636), caused by mutation in the PRKG2 gene (601591) on chromosome 4q21. An autosomal dominant form of acromesomelic dysplasia has also been reported (see 112910). [from OMIM]

MedGen UID:
355199
Concept ID:
C1864356
Disease or Syndrome
4.

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
5.

Smith-McCort dysplasia 2

Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening, and specific radiologic features including marked platyspondyly with double-humped end-plates, kyphoscoliosis, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small pelvis with a lace-like appearance of iliac crests. These clinical and radiologic features are also common to Dyggve-Melchior-Clausen syndrome (DMC; 223800), which is distinguished from SMC by the additional feature of mental retardation (summary by Dupuis et al., 2013). For a discussion of genetic heterogeneity of Smith-McCort dysplasia, see SMC1 (607326). [from OMIM]

MedGen UID:
811489
Concept ID:
C3714896
Disease or Syndrome
6.

Heyn-Sproul-Jackson syndrome

Heyn-Sproul-Jackson syndrome (HESJAS) is characterized by microcephalic dwarfism and global developmental delay (Heyn et al., 2019). [from OMIM]

MedGen UID:
1684743
Concept ID:
C5231475
Disease or Syndrome
7.

Familial osteoarthropathy of the fingers

Thiemann disease is a rare disorder that is considered to be a form of avascular necrosis of the proximal interphalangeal joints of the fingers and toes. The clinical symptoms usually appear in adolescence (Kotevoglu-Senerdem et al., 2003). [from OMIM]

MedGen UID:
82674
Concept ID:
C0264081
Disease or Syndrome
8.

Acromesomelic dysplasia 4

Acromesomelic dysplasia-4 (AMD4) is characterized by disproportionate short stature due to mesomelic shortening of the limbs. Radiographic hallmarks include mild to moderate platyspondyly, moderate brachydactyly, iliac flaring, and metaphyseal alterations of the long bones that progressively increase with age (Diaz-Gonzalez et al., 2022). For a discussion of genetic heterogeneity of acromesomelic dysplasia, see AMD1 (602875). [from OMIM]

MedGen UID:
1794238
Concept ID:
C5562028
Disease or Syndrome
9.

Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome

Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterised by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive. [from ORDO]

MedGen UID:
344437
Concept ID:
C1855175
Disease or Syndrome
10.

Broad phalanx

Increased side-to-side width of one or more phalanges of the fingers or toes. [from HPO]

MedGen UID:
340809
Concept ID:
C1855185
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