Find information on thousands of medical conditions and prescription drugs.

Atelosteogenesis, type II

Atelosteogenesis, type II is a severe disorder of cartilage and bone development. It is inherited in an autosomal recessive pattern and is extremely rare, infants with the disorder are usually stillborn, those that that survive birth die shortly after birth from respiratory failure. more...

Home
Diseases
A
Aagenaes syndrome
Aarskog Ose Pande syndrome
Aarskog syndrome
Aase Smith syndrome
Aase syndrome
ABCD syndrome
Abdallat Davis Farrage...
Abdominal aortic aneurysm
Abdominal cystic...
Abdominal defects
Ablutophobia
Absence of Gluteal muscle
Acalvaria
Acanthocheilonemiasis
Acanthocytosis
Acarophobia
Acatalasemia
Accessory pancreas
Achalasia
Achard syndrome
Achard-Thiers syndrome
Acheiropodia
Achondrogenesis
Achondrogenesis type 1A
Achondrogenesis type 1B
Achondroplasia
Achondroplastic dwarfism
Achromatopsia
Acid maltase deficiency
Ackerman syndrome
Acne
Acne rosacea
Acoustic neuroma
Acquired ichthyosis
Acquired syphilis
Acrofacial dysostosis,...
Acromegaly
Acrophobia
Acrospiroma
Actinomycosis
Activated protein C...
Acute febrile...
Acute intermittent porphyria
Acute lymphoblastic leukemia
Acute lymphocytic leukemia
Acute mountain sickness
Acute myelocytic leukemia
Acute myelogenous leukemia
Acute necrotizing...
Acute promyelocytic leukemia
Acute renal failure
Acute respiratory...
Acute tubular necrosis
Adams Nance syndrome
Adams-Oliver syndrome
Addison's disease
Adducted thumb syndrome...
Adenoid cystic carcinoma
Adenoma
Adenomyosis
Adenosine deaminase...
Adenosine monophosphate...
Adie syndrome
Adrenal incidentaloma
Adrenal insufficiency
Adrenocortical carcinoma
Adrenogenital syndrome
Adrenoleukodystrophy
Aerophobia
Agoraphobia
Agrizoophobia
Agyrophobia
Aicardi syndrome
Aichmophobia
AIDS
AIDS Dementia Complex
Ainhum
Albinism
Albright's hereditary...
Albuminurophobia
Alcaptonuria
Alcohol fetopathy
Alcoholic hepatitis
Alcoholic liver cirrhosis
Alektorophobia
Alexander disease
Alien hand syndrome
Alkaptonuria
Alliumphobia
Alopecia
Alopecia areata
Alopecia totalis
Alopecia universalis
Alpers disease
Alpha 1-antitrypsin...
Alpha-mannosidosis
Alport syndrome
Alternating hemiplegia
Alzheimer's disease
Amaurosis
Amblyopia
Ambras syndrome
Amelogenesis imperfecta
Amenorrhea
American trypanosomiasis
Amoebiasis
Amyloidosis
Amyotrophic lateral...
Anaphylaxis
Androgen insensitivity...
Anemia
Anemia, Diamond-Blackfan
Anemia, Pernicious
Anemia, Sideroblastic
Anemophobia
Anencephaly
Aneurysm
Aneurysm
Aneurysm of sinus of...
Angelman syndrome
Anguillulosis
Aniridia
Anisakiasis
Ankylosing spondylitis
Ankylostomiasis
Annular pancreas
Anorchidism
Anorexia nervosa
Anosmia
Anotia
Anthophobia
Anthrax disease
Antiphospholipid syndrome
Antisocial personality...
Antithrombin deficiency,...
Anton's syndrome
Aortic aneurysm
Aortic coarctation
Aortic dissection
Aortic valve stenosis
Apert syndrome
Aphthous stomatitis
Apiphobia
Aplastic anemia
Appendicitis
Apraxia
Arachnoiditis
Argininosuccinate...
Argininosuccinic aciduria
Argyria
Arnold-Chiari malformation
Arrhythmogenic right...
Arteriovenous malformation
Arteritis
Arthritis
Arthritis, Juvenile
Arthrogryposis
Arthrogryposis multiplex...
Asbestosis
Ascariasis
Aseptic meningitis
Asherman's syndrome
Aspartylglycosaminuria
Aspergillosis
Asphyxia neonatorum
Asthenia
Asthenia
Asthenophobia
Asthma
Astrocytoma
Ataxia telangiectasia
Atelectasis
Atelosteogenesis, type II
Atherosclerosis
Athetosis
Atopic Dermatitis
Atrial septal defect
Atrioventricular septal...
Atrophy
Attention Deficit...
Autoimmune hepatitis
Autoimmune...
Automysophobia
Autonomic dysfunction
Familial Alzheimer disease
Senescence
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z
Medicines

Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen. This disorder is also characterized by an opening in the roof of the mouth (cleft palate), distinctive facial features, an inward- and downward-turning foot (clubfoot), and unusually positioned thumbs (hitchhiker thumbs).

The signs and symptoms of atelosteogenesis, type 2 are similar to those of another skeletal disorder called diastrophic dysplasia. Atelosteogenesis, type 2 tends to be more severe, however.

Atelosteogenesis, type 2 is one of a spectrum of skeletal disorders caused by mutations in the SLC26A2 gene. The protein made by this gene is essential for the normal development of cartilage and for its conversion to bone. Mutations in the SLC26A2 gene disrupt the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal problems characteristic of atelosteogenesis, type 2.

This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell must be altered for a person to be affected by the disorder. Most often, the parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the altered gene.

This article incorporates public domain text from The U.S. National Library of Medicine

Read more at Wikipedia.org


[List your site here Free!]




Home Contact Resources Exchange Links ebay