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Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome(PSACH)

MedGen UID:
98378
Concept ID:
C0410538
Congenital Abnormality
Synonyms: PSACH; Pseudoachondroplasia; Pseudoachondroplastic dysplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia
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: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome (22567005); SED syndrome (22567005); Pseudoachondroplastic dysplasia (22567005); Pseudoachondroplasia (22567005)
 
Gene: COMP
Cytogenetic location: 19p13.11
OMIM: 177170

Disease characteristics

Excerpted from the GeneReview: Pseudoachondroplasia
Pseudoachondroplasia is characterized by normal length at birth and normal facies. Often the presenting feature is a waddling gait, recognized at the onset of walking. Typically, by approximately age two years, the growth rate falls below the standard growth curve, leading to a moderately severe form of disproportionate short-limb short stature. Joint pain during childhood, particularly in the large joints of the lower extremities, is common. Degenerative joint disease is progressive and approximately 50% of individuals with pseudoachondroplasia eventually require hip replacement surgery. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Michael D Briggs  |  Michael J Wright   view full author information

Additional descriptions

From OMIM
Pseudoachondroplasia is an autosomal dominant osteochondrodysplasia characterized by disproportionate short stature, deformity of the lower limbs, brachydactyly, loose joints, and ligamentous laxity. Vertebral anomalies, present in childhood, usually resolve with age, but osteoarthritis is progressive and severe. PSACH and EDM1 comprise a clinical spectrum with phenotypic overlap between mild forms of PSACH and EDM1 (summary by Briggs and Chapman, 2002).  http://www.omim.org/entry/177170
From GHR
Pseudoachondroplasia is an inherited disorder of bone growth. It was once thought to be related to another disorder of bone growth called achondroplasia, but without that disorder's characteristic facial features. More research has demonstrated that pseudoachondroplasia is a separate disorder. All people with pseudoachondroplasia have short stature. The average height of adult males with this condition is 120 centimeters (3 feet, 11 inches), and the average height of adult females is 116 centimeters (3 feet, 9 inches). Individuals with pseudoachondroplasia are not unusually short at birth; by the age of two, their growth rate falls below the standard growth curve. Other characteristic features of pseudoachondroplasia include short arms and legs; a waddling walk; joint pain in childhood that progresses to a joint disease known as osteoarthritis; an unusually large range of joint movement (hyperextensibility) in the hands, knees, and ankles; and a limited range of motion at the elbows and hips. Some people with pseudoachondroplasia have legs that turn outward or inward (valgus or varus deformity). Sometimes, one leg turns outward and the other inward, which is called windswept deformity. Some affected individuals have a spine that curves to the side (scoliosis) or an abnormally curved lower back (lordosis). People with pseudoachondroplasia have normal facial features, head size, and intelligence.  http://ghr.nlm.nih.gov/condition/pseudoachondroplasia

Clinical features

Sensory neuropathy
MedGen UID:
504589
Concept ID:
CN000717
Finding
Peripheral neuropathy affecting the sensory nerves.
Metaphyseal widening
MedGen UID:
344455
Concept ID:
C1855248
Finding
A radiologic finding characterized by an increased width of the metaphyseal regions. It is seen in rickets.
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.
Abnormality of the metacarpal bones
MedGen UID:
427859
Concept ID:
CN001093
Finding
An abnormality of the `metacarpal bones`(FMA:71336).
Limitation of joint mobility
MedGen UID:
446405
Concept ID:
CN001260
Finding
A reduction in the freedom of movement of one or more joints.
Joint hypermobility
MedGen UID:
504821
Concept ID:
CN001265
Finding
The ability of a joint to move beyond its normal range of motion.
Joint laxity
MedGen UID:
504825
Concept ID:
CN001270
Finding
Lack of stability of a joint.
Short toe
MedGen UID:
500911
Concept ID:
CN001658
Finding
A `toe` (FMA:25046) that appears disproportionately short compared to the foot.
Scoliosis
MedGen UID:
427922
Concept ID:
CN002409
Finding
The presence of an abnormal lateral curvature of the spine.
Delayed skeletal maturation
MedGen UID:
505344
Concept ID:
CN002495
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Genu valgum
MedGen UID:
505373
Concept ID:
CN002582
Finding
The legs angle inward, such that the knees are close together and the ankles far apart.
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.
Micromelia
MedGen UID:
505428
Concept ID:
CN002699
Finding
The presence of abnormally small extremities.
Abnormality of the wrist
MedGen UID:
446466
Concept ID:
CN002729
Finding
Abnormality of the wrist, the structure connecting the hand and the forearm.
Abnormality of the hip bone
MedGen UID:
425136
Concept ID:
CN002954
Finding
An abnormality of the `hip bone` (FMA:16585).
Hyperlordosis
MedGen UID:
505513
Concept ID:
CN002983
Finding
Abnormally increased cuvature (anterior concavity) of the lumbar or cervical spine.
Hypoplasia of the odontoid process
MedGen UID:
500949
Concept ID:
CN002987
Finding
Developmental hypoplasia of the `dens of the axis` (FMA:24043).
Atlantoaxial dislocation
MedGen UID:
505533
Concept ID:
CN003080
Finding
Partial dislocation of the atlantoaxial joint.
Irregular carpal bones
MedGen UID:
428046
Concept ID:
CN003743
Finding
Carpal bones with irregular or fragmented margins.
Beaking of vertebral bodies
MedGen UID:
428472
Concept ID:
CN004052
Finding
Anterior tongue-like protrusions of the vertebral bodies.
Abnormality of the epiphyses
MedGen UID:
425804
Concept ID:
CN005226
Finding
An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.
Ulnar deviation of the hand
MedGen UID:
506294
Concept ID:
CN008353
Finding
Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger).
Short distal phalanx of finger
MedGen UID:
426588
Concept ID:
CN008720
Finding
Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the `distal phalanx of finger` (FMA:75818).
Short metacarpal
MedGen UID:
429479
Concept ID:
CN008884
Finding
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Fragmented epiphyses
MedGen UID:
451555
Concept ID:
CN117066
Finding
Fragmented appearance of the epiphyses.
Spatulate ribs
MedGen UID:
507021
Concept ID:
CN178684
Finding
Ribs that are increased in width and taper to the posterior ends.
Disproportionate short-limb short stature
MedGen UID:
426028
Concept ID:
CN007806
Finding
A type of `disproportionate short stature` (HP:0003498) characterized by a short limbs but an average-sized trunk.

Recent clinical studies

Etiology

Xie X, Liao L, Gao J, Luo X
Gene 2013 Jun 10;522(1):102-6. Epub 2013 Apr 4 doi: 10.1016/j.gene.2013.02.056. [Epub ahead of print] PMID: 23562786
Muensterer OJ, Berdon WE, Lachman RS, Done SL
Pediatr Radiol 2012 Apr;42(4):475-80. Epub 2012 Mar 18 doi: 10.1007/s00247-012-2364-8. [Epub ahead of print] PMID: 22426567
Jackson GC, Mittaz-Crettol L, Taylor JA, Mortier GR, Spranger J, Zabel B, Le Merrer M, Cormier-Daire V, Hall CM, Offiah A, Wright MJ, Savarirayan R, Nishimura G, Ramsden SC, Elles R, Bonafe L, Superti-Furga A, Unger S, Zankl A, Briggs MD
Hum Mutat 2012 Jan;33(1):144-57. Epub 2011 Oct 31 doi: 10.1002/humu.21611. [Epub ahead of print] PMID: 21922596Free PMC Article
Dai L, Xie L, Wang Y, Mao M, Li N, Zhu J, Kim C, Zhang Y
BMC Med Genet 2011 May 21;12:72. doi: 10.1186/1471-2350-12-72. [Epub ahead of print] PMID: 21599986Free PMC Article
Liu FX, Li ZL, Wei ZJ, Meng Y, Ren CA, Zhang XD, Yu MX, Huang SZ
Chin Med J (Engl) 2010 Aug;123(16):2181-4. PMID: 20819661

Diagnosis

Xie X, Liao L, Gao J, Luo X
Gene 2013 Jun 10;522(1):102-6. Epub 2013 Apr 4 doi: 10.1016/j.gene.2013.02.056. [Epub ahead of print] PMID: 23562786
Jackson GC, Mittaz-Crettol L, Taylor JA, Mortier GR, Spranger J, Zabel B, Le Merrer M, Cormier-Daire V, Hall CM, Offiah A, Wright MJ, Savarirayan R, Nishimura G, Ramsden SC, Elles R, Bonafe L, Superti-Furga A, Unger S, Zankl A, Briggs MD
Hum Mutat 2012 Jan;33(1):144-57. Epub 2011 Oct 31 doi: 10.1002/humu.21611. [Epub ahead of print] PMID: 21922596Free PMC Article
Jung WW, Balce GC, Cho JW, Jung SC, Hong SJ, Song HR
Int J Mol Med 2010 Dec;26(6):885-91. PMID: 21042783
Liu FX, Li ZL, Wei ZJ, Meng Y, Ren CA, Zhang XD, Yu MX, Huang SZ
Chin Med J (Engl) 2010 Aug;123(16):2181-4. PMID: 20819661
Vatanavicharn N, Lachman RS, Rimoin DL
Am J Med Genet A 2008 Jul 1;146A(13):1682-6. doi: 10.1002/ajmg.a.32313. PMID: 18546327

Therapy

Jackson GC, Mittaz-Crettol L, Taylor JA, Mortier GR, Spranger J, Zabel B, Le Merrer M, Cormier-Daire V, Hall CM, Offiah A, Wright MJ, Savarirayan R, Nishimura G, Ramsden SC, Elles R, Bonafe L, Superti-Furga A, Unger S, Zankl A, Briggs MD
Hum Mutat 2012 Jan;33(1):144-57. Epub 2011 Oct 31 doi: 10.1002/humu.21611. [Epub ahead of print] PMID: 21922596Free PMC Article
Wilczynska M, Ching T
BMJ Case Rep 2011 Oct 11;2011 doi: 10.1136/bcr.08.2011.4667. PMID: 22675014Free PMC Article
Kanazawa H, Tanaka H, Inoue M, Yamanaka Y, Namba N, Seino Y
J Bone Miner Metab 2003;21(5):307-10. doi: 10.1007/s00774-003-0425-7. PMID: 12928832
Mabuchi A, Ikeda T, Fukuda A, Koshizuka Y, Hiraoka H, Miyoshi K, Haga N, Kawaguchi H, Kawakami A, Yamamoto S, Takatori Y, Nakamura K, Ikegawa S
J Hum Genet 2001;46(8):456-62. doi: 10.1007/s100380170045. PMID: 11501943

Prognosis

Shetty GM, Song HR, Unnikrishnan R, Suh SW, Lee SH, Hur CY
J Pediatr Orthop 2007 Oct-Nov;27(7):782-7. doi: 10.1097/BPO.0b013e3181558c1d. PMID: 17878785
Song HR, Li QW, Oh CW, Lee KS, Koo SK, Jung SC
J Pediatr Orthop B 2004 Sep;13(5):340-4. PMID: 15552564
Unger S, Korkko J, Krakow D, Lachman RS, Rimoin DL, Cohn DH
Am J Med Genet 2001 Nov 22;104(2):140-6. PMID: 11746045
Briggs MD, Mortier GR, Cole WG, King LM, Golik SS, Bonaventure J, Nuytinck L, De Paepe A, Leroy JG, Biesecker L, Lipson M, Wilcox WR, Lachman RS, Rimoin DL, Knowlton RG, Cohn DH
Am J Hum Genet 1998 Feb;62(2):311-9. doi: 10.1086/301713. PMID: 9463320Free PMC Article
Kitoh H, Oki T, Arao K, Nogami H
Am J Med Genet 1994 Jul 1;51(3):187-90. doi: 10.1002/ajmg.1320510302. PMID: 8074142

Clinical prediction guides

Posey KL, Veerisetty AC, Liu P, Wang HR, Poindexter BJ, Bick R, Alcorn JL, Hecht JT
Am J Pathol 2009 Oct;175(4):1555-63. Epub 2009 Sep 17 doi: 10.2353/ajpath.2009.090184. [Epub ahead of print] PMID: 19762713Free PMC Article
Vatanavicharn N, Lachman RS, Rimoin DL
Am J Med Genet A 2008 Jul 1;146A(13):1682-6. doi: 10.1002/ajmg.a.32313. PMID: 18546327
Shetty GM, Song HR, Unnikrishnan R, Suh SW, Lee SH, Hur CY
J Pediatr Orthop 2007 Oct-Nov;27(7):782-7. doi: 10.1097/BPO.0b013e3181558c1d. PMID: 17878785
Briggs MD, Rasmussen IM, Weber JL, Yuen J, Reinker K, Garber AP, Rimoin DL, Cohn DH
Genomics 1993 Dec;18(3):656-60. PMID: 8307576
Stanescu V, Maroteaux P
Pediatr Res 1975 Oct;9(10):779-82. doi: 10.1203/00006450-197510000-00006. PMID: 127160

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