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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: 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
MedGen UID:
892334
Concept ID:
CN000007
Functional Concept
Source: HPO
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
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

Sudden cardiac death
MedGen UID:
38841
Concept ID:
C0085298
Pathologic Function
The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).
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.
Bowing of the legs
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.
Elbow dislocation
MedGen UID:
404765
Concept ID:
C2720437
Injury or Poisoning
Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet.
Abnormality of the metaphyses
MedGen UID:
871326
Concept ID:
C4025814
Anatomical Abnormality
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.
Sudden cardiac death
MedGen UID:
38841
Concept ID:
C0085298
Pathologic Function
The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).
Neonatal short-limb short stature
MedGen UID:
337984
Concept ID:
C1850171
Finding
A type of short-limbed dwarfism that is manifest beginning in the neonatal period.
Rhizomelia
MedGen UID:
357122
Concept ID:
C1866730
Congenital Abnormality
Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).
Obesity
MedGen UID:
368429
Concept ID:
C1963185
Finding
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.
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:
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.
Neurological speech impairment
MedGen UID:
11531
Concept ID:
C0037822
Disease or Syndrome
A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders.
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
Ventriculomegaly
MedGen UID:
480553
Concept ID:
C3278923
Finding
An increase in size of the ventricular system of the brain.
No development of motor milestones
MedGen UID:
892432
Concept ID:
C4020874
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Apnea
MedGen UID:
2009
Concept ID:
C0003578
Pathologic Function
Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.
Upper airway obstruction
MedGen UID:
505353
Concept ID:
CN002517
Finding
Increased resistance to the passage of air in the upper airway.
Muscular hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.
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.
Kyphosis
MedGen UID:
44042
Concept ID:
C0022821
Anatomical Abnormality
Deformities of the SPINE characterized by an exaggerated convexity of the vertebral column. The forward bending of the thoracic region usually is more than 40 degrees. This deformity sometimes is called round back or hunchback.
Hyperlordosis
MedGen UID:
9805
Concept ID:
C0024003
Finding
Abnormally increased cuvature (anterior concavity) of the lumbar or cervical spine.
Osteochondrodysplasia
MedGen UID:
10495
Concept ID:
C0029422
Congenital Abnormality
A general term describing features characterized by abnormal development of bones and connective tissues.
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.
Narrow chest
MedGen UID:
96528
Concept ID:
C0426790
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.
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.
Bowing of the legs
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.
Long thorax
MedGen UID:
108393
Concept ID:
C0575484
Finding
Increased inferior to superior extent of the thorax.
Lumbar hyperlordosis
MedGen UID:
263149
Concept ID:
C1184923
Finding
An abnormal accentuation of the inward curvature of the spine in the lumbar region.
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).
Generalized joint laxity
MedGen UID:
322888
Concept ID:
C1836308
Finding
Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body.
Abnormality of the ribs
MedGen UID:
330763
Concept ID:
C1842083
Anatomical Abnormality
An anomaly of the rib.
Joint hypermobility
MedGen UID:
336793
Concept ID:
C1844820
Finding
The ability of a joint to move beyond its normal range of motion.
Small foramen magnum
MedGen UID:
348813
Concept ID:
C1861217
Finding
An abnormal narrowing of the foramen magnum.
Lumbar kyphosis in infancy
MedGen UID:
354980
Concept ID:
C1863423
Finding
Limited elbow extension
MedGen UID:
401158
Concept ID:
C1867103
Finding
Limited ability to straighten the arm at the elbow joint.
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).
Elbow dislocation
MedGen UID:
404765
Concept ID:
C2720437
Injury or Poisoning
Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet.
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.
Abnormality of the metaphyses
MedGen UID:
871326
Concept ID:
C4025814
Anatomical Abnormality
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.
Frontal bossing
MedGen UID:
505049
Concept ID:
CN001816
Finding
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Abnormality of the teeth
MedGen UID:
78084
Concept ID:
C0262444
Finding
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.
Anteverted nares
MedGen UID:
326648
Concept ID:
C1840077
Finding
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Small foramen magnum
MedGen UID:
348813
Concept ID:
C1861217
Finding
An abnormal narrowing of the foramen magnum.
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).
Frontal bossing
MedGen UID:
505049
Concept ID:
CN001816
Finding
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Hyperhidrosis
MedGen UID:
5690
Concept ID:
C0020458
Finding
Abnormal excessive perspiration (sweating).
Acanthosis nigricans
MedGen UID:
504659
Concept ID:
CN000895
Finding
A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.

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

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
Park KW, Garcia RA, Rejuso CA, Choi JW, Song HR
Yonsei Med J 2015 Nov;56(6):1656-62. doi: 10.3349/ymj.2015.56.6.1656. PMID: 26446651Free PMC Article
Shimony N, Ben-Sira L, Sivan Y, Constantini S, Roth J
Childs Nerv Syst 2015 May;31(5):743-50. Epub 2015 Feb 17 doi: 10.1007/s00381-015-2624-7. [Epub ahead of print] PMID: 25686888
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. [Epub ahead of print] PMID: 25432442
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

Diagnosis

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
Shimony N, Ben-Sira L, Sivan Y, Constantini S, Roth J
Childs Nerv Syst 2015 May;31(5):743-50. Epub 2015 Feb 17 doi: 10.1007/s00381-015-2624-7. [Epub ahead of print] PMID: 25686888
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
Pugash D, Lehman AM, Langlois S
Ultrasound Obstet Gynecol 2014 Sep;44(3):365-8. doi: 10.1002/uog.13359. PMID: 24616001

Therapy

Legeai-Mallet L
Endocr Dev 2016;30:98-105. Epub 2015 Dec 10 doi: 10.1159/000439334. [Epub ahead of print] PMID: 26684019
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
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

Prognosis

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
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

Clinical prediction guides

Sarabipour S, Hristova K
Biochim Biophys Acta 2016 Jul;1858(7 Pt A):1436-42. Epub 2016 Mar 31 doi: 10.1016/j.bbamem.2016.03.027. [Epub ahead of print] PMID: 27040652Free PMC Article
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
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. [Epub ahead of print] 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

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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