Achondroplasia (Subscribe)  

achondroplasia most common type of short limbed dwarfism; caused by defect in enchondral bone formation => shortening of tubular bones with normal shaft caliber

Clinical presentation:
A patient with short limbs. no history available.
* Features in images
* Diagnosis
* Differential Similar appearances to this image.

Achondroplasia is a Greek word meaning "without cartilage formation" and is one of the most common causes of dwarfism. The appearance is of short stature with disproportionately short arms and legs and a large head. The characteristic facial features include a prominent forehead and a flattened bridge of the nose. Although...

Synonyms and related keywords: rhizomelic dwarfism, short-limb dwarfism, short-trunk dwarfism, chondrodystrophia fetalis, classic chondrodystrophy, dyschondroplasia fetalis, chondrodysplasia, micromelia, skeletal dysplasia, little people, achondroplastic, skeletal dysplasia
Author: Shital Parikh, MBBS, MS, Consulting Staff, Department of Orthopedics, Buchanan General Hospital
Coauthor: Preeti Batra, MBBS, MD, Staff Physician, Department of Radiology, VS Hospital, India
Achondroplasia is...

Disease characteristics. Achondroplasia is characterized by abnormal bone growth that results in short stature with disproportionately short arms and legs, a large head, and characteristic facial features with frontal bossing and mid-face hypoplasia. In infancy, hypotonia is typical, and acquisition of developmental motor milestones is often delayed. Intelligence and...

From Geneva Foundation for Medical Education and Research

Achondroplasia is an inherited disorder of bone growth. It is one of the group of disorders that are collectively called chondrodystrophies or osteochondrodysplasias. The disorder causes a type of dwarfism that is recognized by a characteristic normal- to large-sized head, shortened arms and legs (especially the upper arm and thigh), a...

Achondroplasia is the most frequent form of short-limb dwarfism. As well as short stature due to shortening of limbs, affected individuals have characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension and genu varum and trident hands. Incidence increases with paternal age. Achondroplasia is...

Objectives
1. Describe the genetics and pathophysiology of achondroplasia
2. Describe the clinical features of achondroplasia in the newborn and in the older child
3. Describe spinal problems associated with achondroplasia
4. Discuss indications for lengthening in achondroplasia
5. Discuss...

Diagnostic Radiology/Musculoskeletal Imaging/Dysplasia Basic/Achondroplasia From Wikibooks, the open-content textbooks collection 1 Definition 2 Etiology 3 Clinical Features 4 Radiologic Findings 5 References Definition Achondroplasia is a common nonlethal form of chondrodysplasia. It is transmitted as an autosomal dominant trait with complete penetrance. De novo mutations cause 75-80% of cases. The mutation rate is...

Achondroplasia is a type of genetic disorder that is a common cause of dwarfism. People with this condition have short stature, usually reaching a full adult height of around 4'0" (1.2 metres).

WHAT IS ACHONDROPLASIA? Achondroplasia (pronounced ay-kon-dro-play-zha) is a genetic condition in which a person is of very short stature because of restricted growth of bones and cartilage. Some conditions which cause restricted growth affect the whole body equally, but the growth of a person with Achondroplasia is 'disproportionate' (i.e. unequal)...

Achondroplasia is a genetic disorder of bone growth that is evident at birth. It affects about one in every 25,000 births and it occurs in all races and in both sexes. Its depiction in ancient Egyptian art makes it one of the oldest recorded birth defects. It is the most common...

" Dyplasia" means abnormal development. "Achondroplasia" refers to the abnormal development of cartilage ("chondro"). Because the skeleton develops by the ossification of cartilage, this leads to an abnormal development of the bones, most commonly causing them to be much shorter than normal. Achondroplasia is the most common of all skeletal dysplasias.... Expert

Achondroplasia is the commonest disproportionate dwarfism. It is inherited as an autosomal dominent. 85% of case incidence is from a spontaneous mutation. The main feature is a symmetrical proximal limb shortening, rhizomelia, the humeri and femora are particularly affected. Metaphyseal irregularity takes the form of cupping or a 'V' shaped...