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Items: 14

1.

Diastrophic dysplasia

Diastrophic dysplasia (DTD) is characterized by limb shortening, normal-sized skull, hitchhiker thumbs, spinal deformities (scoliosis, exaggerated lumbar lordosis, cervical kyphosis), and contractures of the large joints with deformities and early-onset osteoarthritis. Other typical findings are ulnar deviation of the fingers, gap between the first and second toes, and clubfoot. On occasion the disease can be lethal at birth, but most affected individuals survive the neonatal period and develop physical limitations with normal intelligence. [from GTR]

MedGen UID:
113103
Concept ID:
C0220726
Congenital Abnormality
2.

Dysplasia

A usually neoplastic transformation of the cell, associated with altered architectural tissue patterns. The cellular changes include nuclear and cytoplasmic abnormalities. Molecular genetic abnormalities are also often found and, in some instances, may lead to cancer. [from NCI]

MedGen UID:
87191
Concept ID:
C0334044
Pathologic Function
3.

Multiple epiphyseal dysplasia

MedGen UID:
6461
Concept ID:
C0026760
Congenital Abnormality
4.

Achondrogenesis

A rare group of disorders characterized by defective development of bones and cartilage. [from NCI]

MedGen UID:
84
Concept ID:
C0001079
Congenital Abnormality
5.

Atelosteogenesis type II

Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene. [from ORDO]

MedGen UID:
797368
Concept ID:
CN205302
Disease or Syndrome
6.

Atelosteogenesis

MedGen UID:
472841
Concept ID:
CN163181
Disease or Syndrome
7.

Atelosteogenesis type 2

Clinical features of atelosteogenesis type 2 (AO2) include rhizomelic limb shortening with normal-sized skull, hitchhiker thumbs, small chest, protuberant abdomen, cleft palate, and distinctive facial features (midfaceretrusion, depressed nasal bridge, epicanthus, micrognathia). Other typical findings are ulnar deviation of the fingers, gap between the first and second toes, and clubfoot. AO2 is lethal at birth or shortly thereafter because of pulmonary hypoplasia and tracheobronchomalacia. [from GTR]

MedGen UID:
338072
Concept ID:
C1850554
Disease or Syndrome
8.

Epiphyseal dysplasia

MedGen UID:
95932
Concept ID:
C0392476
Congenital Abnormality
9.

Atelosteogenesis type 1

The FLNB-related disorders include a spectrum of phenotypes ranging from mild (spondylocarpotarsal synostosis [SCT] syndrome and Larsen syndrome) to severe (atelosteogenesis types I [AOI] and III [AOIII], boomerang dysplasia). SCT syndrome is characterized by disproportionate short stature, block vertebrae, scoliosis and lordosis, carpal and tarsal fusion, club feet, hearing loss, dental enamel hypoplasia, and mild facial dysmorphisms. Larsen syndrome is characterized by congenital dislocations of the hip, knee, and elbow; club feet (equinovarus or equinovalgus foot deformities); scoliosis and cervical kyphosis, which can be associated with a cervical myelopathy; short, broad, spatulate distal phalanges; and distinctive craniofacies (prominent forehead, depressed nasal bridge, malar flattening, and widely spaced eyes). Both can have midline cleft palate and conductive hearing loss. AOIII and AOI are characterized by severe short-limbed dwarfism; dislocated hips, knees, and elbows; and club feet. AOI is lethal in the perinatal period. [from GTR]

MedGen UID:
82701
Concept ID:
C0265283
Congenital Abnormality
10.

Achondrogenesis, type IB

Clinical features of achondrogenesis type 1B (ACG1B) include extremely short limbs with short fingers and toes, hypoplasia of the thorax, protuberant abdomen, and hydropic fetal appearance caused by the abundance of soft tissue relative to the short skeleton. The face is flat, the neck is short, and the soft tissue of the neck may be thickened. Death occurs prenatally or shortly after birth. [from GTR]

MedGen UID:
78547
Concept ID:
C0265274
Congenital Abnormality
11.

Electrolyte

Substances that dissociate into two or more ions, to some extent, in water. Solutions of electrolytes thus conduct an electric current and can be decomposed by it (ELECTROLYSIS). (Grant & Hackh's Chemical Dictionary, 5th ed) [from MeSH]

MedGen UID:
3997
Concept ID:
C0013832
Inorganic Chemical; Pharmacologic Substance
12.

Epiphyseal dysplasia, multiple, with miniepiphyses

MedGen UID:
332176
Concept ID:
C1836307
Disease or Syndrome
13.

Atelosteogenesis/diastrophic dysplasia

MedGen UID:
609404
Concept ID:
C0432200
Congenital Abnormality
14.

Achondrogenesis, type II

Achondrogenesis type II is characterized by severe micromelic dwarfism with small chest and prominent abdomen, incomplete ossification of the vertebral bodies, and disorganization of the costochondral junction. This form is an autosomal dominant trait occurring mostly as new mutations. However, somatic and germline mosaicism have been reported (summary by Comstock et al., 2010). [from GTR]

MedGen UID:
66315
Concept ID:
C0220685
Congenital Abnormality
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