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Achondroplasia(ACH)

MedGen UID:
1289
Concept ID:
C0001080
Disease or Syndrome
Synonyms: ACH; Achondroplastic dwarfism; Chondrodystrophia fetalis; Chondrodystrophy syndrome; Congenital osteosclerosis; Dwarf, achondroplastic; Osteosclerosis congenita
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
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).
SNOMED CT: Achondroplasia (86268005); Chondrodystrophia fetalis (86268005); Achondroplastic dwarf (86268005); Osteosclerosis congenita (86268005); Congenital osteosclerosis (86268005); Achondroplastic dwarfism (86268005)
 
Gene: FGFR3
Cytogenetic location: 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]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
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.  http://ghr.nlm.nih.gov/condition/achondroplasia

Clinical features

Intrauterine growth retardation
MedGen UID:
342890
Concept ID:
C1853481
Finding
Rhizomelia
MedGen UID:
346538
Concept ID:
C1857191
Finding
Obesity
MedGen UID:
368429
Concept ID:
C1963185
Finding
Neonatal short-limb short stature
MedGen UID:
501056
Concept ID:
CN007851
Finding
A type of short-limbed dwarfism that is manifest beginning in the neonatal period.
Midface retrusion
MedGen UID:
339938
Concept ID:
C1853242
Finding
Anteverted nares
MedGen UID:
339940
Concept ID:
C1853244
Finding
Malar flattening
MedGen UID:
347814
Concept ID:
C1859168
Finding
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Abnormality of the teeth
MedGen UID:
424982
Concept ID:
CN000160
Finding
Any abnormality of the teeth.
Frontal bossing
MedGen UID:
505049
Concept ID:
CN001816
Finding
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Small foramen magnum
MedGen UID:
507287
Concept ID:
CN002431
Finding
An abnormal narrowing of the foramen magnum.
Depressed nasal bridge
MedGen UID:
446656
Concept ID:
CN004681
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Recurrent otitis media
MedGen UID:
332967
Concept ID:
C1837887
Finding
Conductive hearing impairment
MedGen UID:
504435
Concept ID:
CN000378
Finding
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
Hydrocephalus
MedGen UID:
369747
Concept ID:
C1963137
Finding
Motor delay
MedGen UID:
504779
Concept ID:
CN001164
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Megalencephaly
MedGen UID:
504811
Concept ID:
CN001241
Finding
Enlargement of all or parts of the cerebral hemispheres.
Ventriculomegaly
MedGen UID:
505112
Concept ID:
CN001919
Finding
An increase in size of the ventricular system of the brain.
Neurological speech impairment
MedGen UID:
446437
Concept ID:
CN001964
Finding
Brain stem compression
MedGen UID:
505260
Concept ID:
CN002283
Finding
Trident hand
MedGen UID:
98430
Concept ID:
C0426874
Finding
Long thorax
MedGen UID:
108393
Concept ID:
C0575484
Finding
Generalized joint laxity
MedGen UID:
322888
Concept ID:
C1836308
Finding
Abnormal form of the vertebral bodies
MedGen UID:
374194
Concept ID:
C1839326
Finding
Kyphosis
MedGen UID:
335104
Concept ID:
C1845112
Finding
Limb undergrowth
MedGen UID:
336528
Concept ID:
C1849181
Finding
Rhizomelia
MedGen UID:
346538
Concept ID:
C1857191
Finding
Malar flattening
MedGen UID:
347814
Concept ID:
C1859168
Finding
Short femoral neck
MedGen UID:
395244
Concept ID:
C1859367
Finding
Lumbar kyphosis in infancy
MedGen UID:
354980
Concept ID:
C1863423
Finding
Limited elbow extension
MedGen UID:
400659
Concept ID:
C1865003
Finding
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Limited hip extension
MedGen UID:
766282
Concept ID:
C3553368
Finding
Abnormality of the ribs
MedGen UID:
427835
Concept ID:
CN000726
Finding
An anomaly of the rib.
Narrow chest
MedGen UID:
504594
Concept ID:
CN000728
Finding
Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.
Abnormality of the metaphyses
MedGen UID:
428237
Concept ID:
CN000883
Finding
An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.
Brachydactyly syndrome
MedGen UID:
500899
Concept ID:
CN001088
Finding
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.
Joint hypermobility
MedGen UID:
504821
Concept ID:
CN001265
Finding
The ability of a joint to move beyond its normal range of motion.
Frontal bossing
MedGen UID:
505049
Concept ID:
CN001816
Finding
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Skeletal dysplasia
MedGen UID:
505316
Concept ID:
CN002411
Finding
A general term describing features characterized by abnormal development of bones and connective tissues.
Small foramen magnum
MedGen UID:
507287
Concept ID:
CN002431
Finding
An abnormal narrowing of the foramen magnum.
Lumbar hyperlordosis
MedGen UID:
505413
Concept ID:
CN002659
Finding
An abnormal accentuation of the inward curvature of the spine in the lumbar region.
Genu varum
MedGen UID:
505425
Concept ID:
CN002687
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.
Flared metaphyses
MedGen UID:
500946
Concept ID:
CN002726
Finding
The presence of splayed (i.e.,flared) metaphyseal segments of the long bones.
Elbow dislocation
MedGen UID:
505438
Concept ID:
CN002748
Finding
Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet.
Hyperlordosis
MedGen UID:
505513
Concept ID:
CN002983
Finding
Abnormally increased cuvature (anterior concavity) of the lumbar or cervical spine.
Spinal canal stenosis
MedGen UID:
505534
Concept ID:
CN003081
Finding
An abnormal narrowing of the spinal canal.
Spinal stenosis with reduced interpedicular distance
MedGen UID:
428562
Concept ID:
CN005072
Finding
An abnormal narrowing of the spinal canal related to a reduction in the interpedicular distance (i.e., the distance measured between the pedicles on frontal [coronal] imaging).
Hyperhidrosis
MedGen UID:
5690
Concept ID:
C0020458
Finding
Excessive sweating. In the localized type, the most frequent sites are the palms, soles, axillae, inguinal folds, and the perineal area. Its chief cause is thought to be emotional. Generalized hyperhidrosis may be induced by a hot, humid environment, by fever, or by vigorous exercise.
Acanthosis nigricans
MedGen UID:
504659
Concept ID:
CN000895
Finding
A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.
Sudden cardiac death
MedGen UID:
369872
Concept ID:
C1968862
Finding
Apnea
MedGen UID:
2009
Concept ID:
C0003578
Pathologic Function
A disorder characterized by cessation of breathing.
Upper airway obstruction
MedGen UID:
505353
Concept ID:
CN002517
Finding
Increased resistance to the passage of air in the upper airway.
Recurrent otitis media
MedGen UID:
332967
Concept ID:
C1837887
Finding
Muscular hypotonia
MedGen UID:
504768
Concept ID:
CN001147
Finding
Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.
Infantile muscular hypotonia
MedGen UID:
426035
Concept ID:
CN007871
Finding
Muscular hypotonia (abnormally low muscle tone) manifesting in infancy.
Trident hand
MedGen UID:
98430
Concept ID:
C0426874
Finding
Limb undergrowth
MedGen UID:
336528
Concept ID:
C1849181
Finding
Rhizomelia
MedGen UID:
346538
Concept ID:
C1857191
Finding
Short femoral neck
MedGen UID:
395244
Concept ID:
C1859367
Finding
Limited elbow extension
MedGen UID:
400659
Concept ID:
C1865003
Finding
Abnormality of the metaphyses
MedGen UID:
428237
Concept ID:
CN000883
Finding
An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.
Brachydactyly syndrome
MedGen UID:
500899
Concept ID:
CN001088
Finding
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.
Genu varum
MedGen UID:
505425
Concept ID:
CN002687
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.
Flared metaphyses
MedGen UID:
500946
Concept ID:
CN002726
Finding
The presence of splayed (i.e.,flared) metaphyseal segments of the long bones.
Elbow dislocation
MedGen UID:
505438
Concept ID:
CN002748
Finding
Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet.

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

Mukherjee D, Pressman BD, Krakow D, Rimoin DL, Danielpour M
J Neurosurg Pediatr 2014 Sep;14(3):238-44. Epub 2014 Jun 27 doi: 10.3171/2014.5.PEDS12614. [Epub ahead of print] PMID: 24971605
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. [Epub ahead of print] PMID: 24825324Free PMC Article
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. [Epub ahead of print] PMID: 24677650
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. [Epub ahead of print] PMID: 24311312
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. [Epub ahead of print] PMID: 23523391

Diagnosis

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. [Epub ahead of print] PMID: 24825324Free PMC Article
Hecht JT, Bodensteiner JB, Butler IJ
Handb Clin Neurol 2014;119:551-63. doi: 10.1016/B978-0-7020-4086-3.00036-9. PMID: 24365319
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. [Epub ahead of print] PMID: 24311312
Bessenyei B, Nagy A, Balogh E, Novák L, Bognár L, Knegt AC, Oláh E
Am J Med Genet A 2013 Oct;161A(10):2641-4. Epub 2013 Aug 15 doi: 10.1002/ajmg.a.36130. [Epub ahead of print] PMID: 23949953
Copelan A, Booth K, Balon H
J Nucl Med Technol 2013 Sep;41(3):234-5; 241. Epub 2013 Jul 18 doi: 10.2967/jnmt.113.126417. [Epub ahead of print] PMID: 23868929

Therapy

Garcia S, Dirat B, Tognacci T, Rochet N, Mouska X, Bonnafous S, Patouraux S, Tran A, Gual P, Le Marchand-Brustel Y, Gennero I, Gouze E
Sci Transl Med 2013 Sep 18;5(203):203ra124. doi: 10.1126/scitranslmed.3006247. PMID: 24048522
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. [Epub ahead of print] 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
Ireland PJ, Donaghey S, McGill J, Zankl A, Ware RS, Pacey V, Ault J, Savarirayan R, Sillence D, Thompson E, Townshend S, Johnston LM
Dev Med Child Neurol 2012 Jun;54(6):532-7. Epub 2012 Mar 12 doi: 10.1111/j.1469-8749.2012.04234.x. [Epub ahead of print] PMID: 22409389
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. [Epub ahead of print] PMID: 21785895Free PMC Article

Prognosis

Kitoh H, Mishima K, Matsushita M, Nishida Y, Ishiguro N
Bone Joint J 2014 Sep;96-B(9):1269-73. doi: 10.1302/0301-620X.96B9.33840. PMID: 25183602
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. [Epub ahead of print] PMID: 24677650
Ros-Pérez P, Regidor FJ, Colino E, Martínez-Payo C, Barroso E, Heath KE
BMC Pediatr 2012 Jun 29;12:88. doi: 10.1186/1471-2431-12-88. [Epub ahead of print] PMID: 22747519Free 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
Swift D, Nagy L, Robertson B
J Neurosurg Pediatr 2012 Jan;9(1):73-81. doi: 10.3171/2011.10.PEDS1169. PMID: 22208325

Clinical prediction guides

Kitoh H, Mishima K, Matsushita M, Nishida Y, Ishiguro N
Bone Joint J 2014 Sep;96-B(9):1269-73. doi: 10.1302/0301-620X.96B9.33840. PMID: 25183602
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. [Epub ahead of print] PMID: 24825324Free PMC Article
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. [Epub ahead of print] PMID: 24677650
Di Rocco F, Biosse Duplan M, Heuzé Y, Kaci N, Komla-Ebri D, Munnich A, Mugniery E, Benoist-Lasselin C, Legeai-Mallet L
Hum Mol Genet 2014 Jun 1;23(11):2914-25. Epub 2014 Jan 12 doi: 10.1093/hmg/ddu004. [Epub ahead of print] PMID: 24419316
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. [Epub ahead of print] PMID: 23523391

Recent systematic reviews

Kim SJ, Pierce W, Sabharwal S
Acta Orthop 2014 Apr;85(2):181-6. doi: 10.3109/17453674.2014.899856. PMID: 24650027Free PMC Article
Weisman PS, Kashireddy PV, Ernst LM
Pediatr Dev Pathol 2014 Jan-Feb;17(1):10-20. Epub 2013 Oct 21 doi: 10.2350/13-02-1305-OA.1. [Epub ahead of print] PMID: 24144387
Schiedel F, Rödl R
Disabil Rehabil 2012;34(12):982-7. Epub 2011 Nov 23 doi: 10.3109/09638288.2011.631677. [Epub ahead of print] 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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