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Items: 4

1.

Achondroplasia

Achondroplasia is the most common cause of disproportionate short stature. Affected individuals have rhizomelic shortening of the limbs, macrocephaly, and characteristic facial features with frontal bossing and midface retrusion. In infancy, hypotonia is typical, and acquisition of developmental motor milestones is often both aberrant in pattern and delayed. Intelligence and life span are usually near normal, although craniocervical junction compression increases the risk of death in infancy. Additional complications include obstructive sleep apnea, middle ear dysfunction, kyphosis, and spinal stenosis. [from GeneReviews]

MedGen UID:
1289
Concept ID:
C0001080
Congenital Abnormality
2.

Severe achondroplasia-developmental delay-acanthosis nigricans syndrome

SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare disorder of bone growth characterized by skeletal, brain, and skin abnormalities.\n\nAll people with this condition have extremely short stature with particularly short arms and legs. Other features include unusual bowing of the leg bones; a small chest with short ribs and curved collar bones; short, broad fingers; and folds of extra skin on the arms and legs. Structural abnormalities of the brain cause seizures, profound developmental delay, and intellectual disability. Several affected individuals also have had episodes in which their breathing slows or stops for short periods (apnea). Acanthosis nigricans, a progressive skin disorder characterized by thick, dark, velvety skin, is another characteristic feature of SADDAN that develops in infancy or early childhood. [from MedlinePlus Genetics]

MedGen UID:
393098
Concept ID:
C2674173
Congenital Abnormality
3.

Short-limb skeletal dysplasia with severe combined immunodeficiency

An extremely rare type of severe combined immunodeficiency syndrome (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity. [from SNOMEDCT_US]

MedGen UID:
348040
Concept ID:
C1860168
Disease or Syndrome
4.

Achondroplasia and Swiss type agammaglobulinemia

MedGen UID:
418984
Concept ID:
C2931087
Disease or Syndrome
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