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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

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 elbow extension
MedGen UID:
401158
Concept ID:
C1867103
Finding
Limited ability to straighten the arm at the elbow joint.
Conductive hearing loss
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.
Hydrocephalus
MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
Autosomal recessive nonsyndromic hydrocephalus is characterized by onset in utero of enlarged ventricles due to a disturbance of cerebrospinal fluid accumulation. Affected individuals may have neurologic impairment (summary by Drielsma et al., 2012). Hydrocephalus can also be caused by Arnold-Chiari malformation, atresia of foramen of Magendie, stenosis of aqueduct of Sylvius (307000), toxoplasmosis, hydranencephaly, etc. Furthermore, it develops in infancy or childhood in achondroplasia (100800) and in Hurler disease (607014). Genetic Heterogeneity of Congenital Hydrocephalus See also autosomal recessive HYC2 (615219), caused by mutation in the MPDZ gene (603785) on chromosome 9p. An X-linked form (307000) is caused by mutation in the L1CAM gene on (308840) on chromosome Xq28.
Macrocephaly
MedGen UID:
65141
Concept ID:
C0221355
Congenital Abnormality
Enlargement of all or parts of the cerebral hemispheres.
Brain stem compression
MedGen UID:
82849
Concept ID:
C0270680
Disease or Syndrome
Infantile muscular hypotonia
MedGen UID:
395993
Concept ID:
C1860834
Finding
Muscular hypotonia (abnormally low muscle tone) manifesting in infancy.
Recurrent otitis media
MedGen UID:
155436
Concept ID:
C0747085
Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
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).
Small foramen magnum
MedGen UID:
348813
Concept ID:
C1861217
Finding
An abnormal narrowing of the foramen magnum.
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.
Depressed nasal bridge
MedGen UID:
373112
Concept ID:
C1836542
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Anatomical Abnormality
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Small foramen magnum
MedGen UID:
348813
Concept ID:
C1861217
Finding
An abnormal narrowing of the foramen magnum.
Hypoplasia of midface
MedGen UID:
388629
Concept ID:
C2673410
Finding
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.

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

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
Akyol Y, Averill LW, Atanda A, Kecskemethy HH, Bober MB, Mackenzie WG
Pediatr Radiol 2015 Jun;45(6):888-95. Epub 2014 Nov 29 doi: 10.1007/s00247-014-3228-1. PMID: 25432442
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
Dessoffy KE, Modaff P, Pauli RM
Am J Med Genet A 2014 Feb;164A(2):407-14. Epub 2013 Dec 5 doi: 10.1002/ajmg.a.36303. PMID: 24311312

Diagnosis

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
Pugash D, Lehman AM, Langlois S
Ultrasound Obstet Gynecol 2014 Sep;44(3):365-8. doi: 10.1002/uog.13359. PMID: 24616001

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

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
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
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

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
Nishimura N, Hanaki K
J Clin Nurs 2014 Nov;23(21-22):3045-56. Epub 2014 Feb 21 PMID: 25453127
Bosemani T, Orman G, Carson KA, Meoded A, Huisman TA, Poretti A
Dev Med Child Neurol 2014 Nov;56(11):1085-92. Epub 2014 May 14 doi: 10.1111/dmcn.12492. PMID: 24825324Free PMC Article
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

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
Pediatrics 1995 Mar;95(3):443-51. PMID: 7862491

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