Achondroplasia (ACH)

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Disease Ontology 12 DOID:4480 OMIM® 57 100800 KEGG 36 H01749 MeSH 44 D000130 NCIt 50 C34345 SNOMED-CT 67 268273004 ICD10 32 Q77.4

MESH via Orphanet 45 D000130 ICD10 via Orphanet 33 Q77.4 UMLS via Orphanet 71 C0001080 Orphanet 58 ORPHA15 MedGen 41 C0001080 SNOMED-CT via HPO 68 103276001 15188001 19410003 230745008 249755001 25816005 263681008 289457006 299331007 343087000 36485005 389087006 402599005 414915002 414916001 43476002 44057004 444879009 5582005 708670007 72129000 78275009 90145001 95828007 more UMLS 70 C0001080 C2930793

MedlinePlus Genetics : ⁴³ Achondroplasia is a form of short-limbed dwarfism. The word achondroplasia literally means "without cartilage formation." Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development. However, in achondroplasia the problem is not in forming cartilage but in converting it to bone (a process called ossification), particularly in the long bones of the arms and legs. Achondroplasia is similar to another skeletal disorder called hypochondroplasia, but the features of achondroplasia tend to be more severe.All people with achondroplasia have short stature. The average height of an adult male with achondroplasia is 131 centimeters (4 feet, 4 inches), and the average height for adult females is 124 centimeters (4 feet, 1 inch). Characteristic features of achondroplasia include an average-size trunk, short arms and legs with particularly short upper arms and thighs, limited range of motion at the elbows, and an enlarged head (macrocephaly) with a prominent forehead. Fingers are typically short and the ring finger and middle finger may diverge, giving the hand a three-pronged (trident) appearance. People with achondroplasia are generally of normal intelligence.Health problems commonly associated with achondroplasia include episodes in which breathing slows or stops for short periods (apnea), obesity, and recurrent ear infections. In childhood, individuals with the condition usually develop a pronounced and permanent sway of the lower back (lordosis) and bowed legs. Some affected people also develop abnormal front-to-back curvature of the spine (kyphosis) and back pain. A potentially serious complication of achondroplasia is spinal stenosis, which is a narrowing of the spinal canal that can pinch (compress) the upper part of the spinal cord. Spinal stenosis is associated with pain, tingling, and weakness in the legs that can cause difficulty with walking. Another uncommon but serious complication of achondroplasia is hydrocephalus, which is a buildup of fluid in the brain in affected children that can lead to increased head size and related brain abnormalities.

MalaCards based summary : Achondroplasia, also known as ach, is related to achondroplasia, severe, with developmental delay and acanthosis nigricans and hypochondroplasia. An important gene associated with Achondroplasia is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are ERK Signaling and TGF-Beta Pathway. The drugs Natriuretic Peptide, C-Type and mometasone furoate have been mentioned in the context of this disorder. Affiliated tissues include long bone, bone and spinal cord, and related phenotypes are bowing of the legs and thoracolumbar kyphosis

Disease Ontology : ¹² An osteochondrodysplasia that results in dwarfism which has material basis in abnormal ossification of cartilage in located in long bone.

GARD : ²⁰ Achondroplasia is a disorder of bone growth that prevents the changing of cartilage (particularly in the long bones of the arms and legs) to bone. It is characterized by dwarfism, limited range of motion at the elbows, large head size (macrocephaly), small fingers, and normal intelligence. Achondroplasia can cause health complications such as interruption of breathing ( apnea ), obesity, recurrent ear infections, an exaggerated inward curve of the lumbar spine ( lordosis ). More serious problems include a narrowing of the spinal canal that can pinch (compress) the upper part of the spinal cord (spinal stenosis) and a buildup of fluid in the brain ( hydrocephalus ). Some people with achondroplasia may have delayed motor development early on, but cognition is normal. Achondroplasia is caused by mutations in the FGFR3 gene. Inheritance is autosomal dominant. Treatment may include medication with growth hormone, and surgery aimed to correct the spine, or bone problems, as well, as to reduce the pressure inside the brain in cases of hydrocephaly. Prognosis with achondroplasia is good except in cases of spinal compression at the neck.

OMIM® : ⁵⁷ Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995). (100800) (Updated 20-May-2021)

KEGG : ³⁶ Achondroplasia is the most common skeletal dysplasia and the most frequent cause of short-limbed dwarfism. It is usually recognised at birth because of its distinctive clinical and radiographic features. Newborn infants with achondroplasia typically present with disproportionate shortening of the limbs, a long and narrow trunk, a large head with frontal bossing and midface retrusion. This disease is caused by mutations of the transmembrane receptor FGFR3, an important regulator of bone growth. It is inherited in an autosomal dominant manner, but in the majority of cases it results from de novo mutations. The most common complications of achondroplasia are medullary and radicular compressions due to spinal stenosis and deformities of the lower limbs. Most individuals with achondroplasia have normal intelligence.

UniProtKB/Swiss-Prot : ⁷² Achondroplasia: A frequent form of short-limb dwarfism. It is characterized by a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands. ACH is an autosomal dominant disease.

Wikipedia : ⁷³ Achondroplasia is a genetic disorder whose primary feature is dwarfism. In those with the condition, the... more...

GeneReviews: NBK1152

Clinical features from OMIM®:

100800 (Updated 20-May-2021)

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