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Achondroplasia(ACH)

MedGen UID:
1289
Concept ID:
C0001080
Congenital Abnormality; Disease or Syndrome
Synonyms: ACH; Achondroplastic dwarfism
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Achondroplasia (86268005); Chondrodystrophia fetalis (86268005); Achondroplastic dwarf (86268005); Osteosclerosis congenita (86268005); Congenital osteosclerosis (86268005); Achondroplastic dwarfism (86268005)
 
Gene (location): FGFR3 (4p16.3)
OMIM®: 100800
Orphanet: ORPHA15

Disease characteristics

Excerpted from the GeneReview: Achondroplasia
Achondroplasia is the most common process resulting in disproportionate small stature. Affected individuals have short arms and legs, a large head, and characteristic facial features with frontal bossing and midface retrusion (formerly known as midface hypoplasia). 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. [from GeneReviews]
Authors:
Richard M Pauli   view full author information

Additional descriptions

From OMIM
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).  http://www.omim.org/entry/100800
From GHR
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.  https://ghr.nlm.nih.gov/condition/achondroplasia

Clinical features

Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely.
Trident hand
MedGen UID:
98430
Concept ID:
C0426874
Finding
A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits.
Genu varum
MedGen UID:
154257
Concept ID:
C0544755
Finding
A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.
Short femoral neck
MedGen UID:
373033
Concept ID:
C1836184
Finding
An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
Limited elbow extension
MedGen UID:
401158
Concept ID:
C1867103
Finding
Limited ability to straighten the arm at the elbow joint.
Conductive hearing impairment
MedGen UID:
9163
Concept ID:
C0018777
Disease or Syndrome
Hearing loss due to interference with the mechanical reception or amplification of sound to the COCHLEA. The interference is in the outer or middle ear involving the EAR CANAL; TYMPANIC MEMBRANE; or EAR OSSICLES.
Recurrent infections of the middle ear
MedGen UID:
155436
Concept ID:
C0747085
Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
Infantile muscular hypotonia
MedGen UID:
395993
Concept ID:
C1860834
Finding
Muscular hypotonia (abnormally low muscle tone) manifesting in infancy.
Recurrent infections of the middle ear
MedGen UID:
155436
Concept ID:
C0747085
Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely.
Trident hand
MedGen UID:
98430
Concept ID:
C0426874
Finding
A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits.
Short femoral neck
MedGen UID:
373033
Concept ID:
C1836184
Finding
An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
Limited hip extension
MedGen UID:
766282
Concept ID:
C3553368
Finding
Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Small foramen magnum
MedGen UID:
348813
Concept ID:
C1861217
Finding
An abnormal narrowing of the foramen magnum.

Professional guidelines

PubMed

Toriello HV, Meck JM; Professional Practice and Guidelines Committee.
Genet Med 2008 Jun;10(6):457-60. doi: 10.1097/GIM.0b013e318176fabb. PMID: 18496227Free PMC Article

Recent clinical studies

Etiology

Hoover-Fong J, McGready J, Schulze K, Alade AY, Scott CI
Am J Med Genet A 2017 May;173(5):1226-1230. Epub 2017 Apr 4 doi: 10.1002/ajmg.a.38150. PMID: 28374958
Brooks JT, Ramji AF, Lyapustina TA, Yost MT, Ain MC
J Pediatr Orthop 2017 Jan;37(1):e43-e47. doi: 10.1097/BPO.0000000000000662. PMID: 26469688
Orhant L, Anselem O, Fradin M, Becker PH, Beugnet C, Deburgrave N, Tafuri G, Letourneur F, Goffinet F, Allach El Khattabi L, Leturcq F, Bienvenu T, Tsatsaris V, Nectoux J
Prenat Diagn 2016 May;36(5):397-406. Epub 2016 Apr 7 doi: 10.1002/pd.4790. PMID: 26850935
White KK, Parnell SE, Kifle Y, Blackledge M, Bompadre V
Am J Med Genet A 2016 Jan;170A(1):32-41. Epub 2015 Sep 23 doi: 10.1002/ajmg.a.37385. PMID: 26394798
Brooks JT, Bernholt DL, Tran KV, Ain MC
J Pediatr Orthop 2016 Jun;36(4):349-54. doi: 10.1097/BPO.0000000000000458. PMID: 26114241

Diagnosis

Brooks JT, Ramji AF, Lyapustina TA, Yost MT, Ain MC
J Pediatr Orthop 2017 Jan;37(1):e43-e47. doi: 10.1097/BPO.0000000000000662. PMID: 26469688
Orhant L, Anselem O, Fradin M, Becker PH, Beugnet C, Deburgrave N, Tafuri G, Letourneur F, Goffinet F, Allach El Khattabi L, Leturcq F, Bienvenu T, Tsatsaris V, Nectoux J
Prenat Diagn 2016 May;36(5):397-406. Epub 2016 Apr 7 doi: 10.1002/pd.4790. PMID: 26850935
White KK, Bompadre V, Goldberg MJ, Bober MB, Campbell JW, Cho TJ, Hoover-Fong J, Mackenzie W, Parnell SE, Raggio C, Rapoport DM, Spencer SA, Savarirayan R
Am J Med Genet A 2016 Jan;170A(1):42-51. Epub 2015 Sep 23 doi: 10.1002/ajmg.a.37394. PMID: 26394886
Ahoor MH, Amizadeh Y, Sorkhabi R
Middle East Afr J Ophthalmol 2015 Oct-Dec;22(4):522-4. doi: 10.4103/0974-9233.167819. PMID: 26692730Free PMC Article
Accogli A, Pacetti M, Fiaschi P, Pavanello M, Piatelli G, Nuzzi D, Baldi M, Tassano E, Severino MS, Allegri A, Capra V
Am J Med Genet A 2015 Mar;167A(3):646-52. doi: 10.1002/ajmg.a.36933. PMID: 25691418

Therapy

Balci HI, Kocaoglu M, Sen C, Eralp L, Batibay SG, Bilsel K
Bone Joint J 2015 Nov;97-B(11):1577-81. doi: 10.1302/0301-620X.97B11.36037. PMID: 26530664
Bouali H, Latrech H
Pediatr Endocrinol Rev 2015 Jun;12(4):388-95. PMID: 26182483
Song SH, Agashe MV, Huh YJ, Hwang SY, Song HR
Acta Orthop 2012 Jun;83(3):282-7. Epub 2012 Apr 11 doi: 10.3109/17453674.2012.678802. PMID: 22489887Free PMC Article
Song SH, Kim SE, Agashe MV, Lee H, Refai MA, Park YE, Choi HJ, Park JH, Song HR
J Bone Joint Surg Br 2012 Apr;94(4):556-63. doi: 10.1302/0301-620X.94B4.28375. PMID: 22434475
Kim SJ, Balce GC, Agashe MV, Song SH, Song HR
Clin Orthop Relat Res 2012 Feb;470(2):616-21. Epub 2011 Jul 22 doi: 10.1007/s11999-011-1983-y. PMID: 21785895Free PMC Article

Prognosis

Mori H, Matsumoto K, Kawai N, Izawa T, Horiuchi S, Tanaka E
Am J Orthod Dentofacial Orthop 2017 Apr;151(4):793-803. doi: 10.1016/j.ajodo.2016.03.034. PMID: 28364903
White KK, Bompadre V, Goldberg MJ, Bober MB, Campbell JW, Cho TJ, Hoover-Fong J, Mackenzie W, Parnell SE, Raggio C, Rapoport DM, Spencer SA, Savarirayan R
Am J Med Genet A 2016 Jan;170A(1):42-51. Epub 2015 Sep 23 doi: 10.1002/ajmg.a.37394. PMID: 26394886
White KK, Parnell SE, Kifle Y, Blackledge M, Bompadre V
Am J Med Genet A 2016 Jan;170A(1):32-41. Epub 2015 Sep 23 doi: 10.1002/ajmg.a.37385. PMID: 26394798
Kaga A, Murotsuki J, Kamimura M, Kimura M, Saito-Hakoda A, Kanno J, Hoshi K, Kure S, Fujiwara I
Congenit Anom (Kyoto) 2015 May;55(2):116-20. doi: 10.1111/cga.12097. PMID: 25385298
Simmons K, Hashmi SS, Scheuerle A, Canfield M, Hecht JT
Birth Defects Res A Clin Mol Teratol 2014 Apr;100(4):247-9. Epub 2014 Feb 12 doi: 10.1002/bdra.23210. PMID: 24677650

Clinical prediction guides

Hoover-Fong J, McGready J, Schulze K, Alade AY, Scott CI
Am J Med Genet A 2017 May;173(5):1226-1230. Epub 2017 Apr 4 doi: 10.1002/ajmg.a.38150. PMID: 28374958
Atanda A Jr, Wallace M, Bober MB, Mackenzie W
J Pediatr Orthop 2016 Jul-Aug;36(5):e55-8. doi: 10.1097/BPO.0000000000000622. PMID: 27276636
White KK, Parnell SE, Kifle Y, Blackledge M, Bompadre V
Am J Med Genet A 2016 Jan;170A(1):32-41. Epub 2015 Sep 23 doi: 10.1002/ajmg.a.37385. PMID: 26394798
Khalil A, Morales-Roselló J, Morlando M, Bhide A, Papageorghiou A, Thilaganathan B
Ultrasound Obstet Gynecol 2014 Jul;44(1):69-75. doi: 10.1002/uog.13339. PMID: 24623391
Afsharpaiman S, Saburi A, Waters KA
Paediatr Respir Rev 2013 Dec;14(4):250-5. Epub 2013 Mar 21 doi: 10.1016/j.prrv.2013.02.009. PMID: 23523391

Recent systematic reviews

Miccoli M, Bertelloni S, Massart F
Horm Res Paediatr 2016;86(1):27-34. Epub 2016 Jun 30 doi: 10.1159/000446958. PMID: 27355624
White KK, Bompadre V, Goldberg MJ, Bober MB, Campbell JW, Cho TJ, Hoover-Fong J, Mackenzie W, Parnell SE, Raggio C, Rapoport DM, Spencer SA, Savarirayan R
Am J Med Genet A 2016 Jan;170A(1):42-51. Epub 2015 Sep 23 doi: 10.1002/ajmg.a.37394. PMID: 26394886
Kim SJ, Pierce W, Sabharwal S
Acta Orthop 2014 Apr;85(2):181-6. doi: 10.3109/17453674.2014.899856. PMID: 24650027Free PMC Article
Schiedel F, Rödl R
Disabil Rehabil 2012;34(12):982-7. Epub 2011 Nov 23 doi: 10.3109/09638288.2011.631677. PMID: 22112021
Trotter TL, Hall JG; American Academy of Pediatrics Committee on Genetics.
Pediatrics 2005 Sep;116(3):771-83. doi: 10.1542/peds.2005-1440. PMID: 16140722

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