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Delayed ossification of carpal bones

MedGen UID:
374771
Concept ID:
C1841684
Finding
Synonyms: Carpal delayed ossification; Carpal ossification delay; Delayed carpal bone age; Delayed carpal bone ossification; Delayed carpal ossification
 
HPO: HP:0001216

Definition

Ossification of carpal bones occurs later than age-adjusted norms. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDelayed ossification of carpal bones

Conditions with this feature

Spondylometaphyseal dysplasia, Kozlowski type
MedGen UID:
82698
Concept ID:
C0265280
Congenital Abnormality
The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias.
Sponastrime dysplasia
MedGen UID:
266247
Concept ID:
C1300260
Disease or Syndrome
Sponastrime dysplasia is an autosomal recessive spondyloepimetaphyseal dysplasia (SEMD) named for characteristic clinical and radiographic findings, including spine (spondylar) abnormalities, midface hypoplasia with a depressed nasal bridge, and striation of the metaphyses. Additional features include disproportionate short stature with exaggerated lumbar lordosis, scoliosis, coxa vara, limited elbow extension, small dysplastic epiphyses, childhood cataracts, short dental roots, and hypogammaglobulinemia. Radiographically, the abnormalities of the lumbar vertebral bodies are suggested to be the most specific finding because the characteristic metaphyseal striations may not be apparent at young ages. Striking clinical variability in presentation, severity, and associated features has been observed (summary by Burrage et al., 2019).
Angel-shaped phalango-epiphyseal dysplasia
MedGen UID:
366028
Concept ID:
C1739384
Congenital Abnormality
A form of acromelic dysplasia with the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits which all appear short), epiphyseal changes in the hips and in some, abnormal dentition and delayed bone age. A rare disease with less than 20 cases reported in the literature, however, it is likely under diagnosed. Caused by mutations in the growth differentiation factor 5 (GDF5) gene, located on chromosome 20q11.2, encoding CDMP1 (cartilage derived morphogenetic protein). CDMP1 belongs to the TGF beta super family and plays a role in bone growth and joint morphogenesis. Transmitted as an autosomal dominant condition.
CODAS syndrome
MedGen UID:
333031
Concept ID:
C1838180
Disease or Syndrome
CODAS is an acronym for cerebral, ocular, dental, auricular, and skeletal anomalies. CODAS syndrome is a rare disorder characterized by a distinctive constellation of features that includes developmental delay, craniofacial anomalies, cataracts, ptosis, median nasal groove, delayed tooth eruption, hearing loss, short stature, delayed epiphyseal ossification, metaphyseal hip dysplasia, and vertebral coronal clefts (summary by Strauss et al., 2015).
Eiken syndrome
MedGen UID:
325097
Concept ID:
C1838779
Congenital Abnormality
Eiken syndrome (EKNS) is an autosomal recessive skeletal dysplasia characterized by delayed ossification of bones, epiphyseal dysplasia, and bone remodeling abnormalities. Type A1 brachydactyly (see 112500), supernumerary epiphyses of proximal phalanges and metacarpals, and failure of eruption of primary teeth have also been described. Defining radiologic features include delayed ossification of epiphyses and primary ossification centers of short tubular bones, modeling abnormalities of tubular bones, and angel-shaped phalanges (Jacob et al., 2019). See 603740 for a disorder with similar radiologic features.
Hand-foot-genital syndrome
MedGen UID:
331103
Concept ID:
C1841679
Disease or Syndrome
Hand-foot-genital syndrome (HFGS) is characterized by limb malformations and urogenital defects. Mild-to-severe bilateral shortening of the thumbs and great toes, caused primarily by shortening of the distal phalanx and/or the first metacarpal or metatarsal, is the most common limb malformation and results in impaired dexterity or apposition of the thumbs. Urogenital malformations include abnormalities of the ureters and urethra and various degrees of incomplete müllerian fusion in females, and hypospadias of variable severity with or without chordee in males. Vesicoureteral reflux, recurrent urinary tract infections, and chronic pyelonephritis may occur; fertility is normal.
Acrocapitofemoral dysplasia
MedGen UID:
334681
Concept ID:
C1843096
Disease or Syndrome
Acrocapitofemoral dysplasia (ACFD) is an autosomal recessive skeletal dysplasia characterized by postnatal-onset disproportionate short stature, relatively large head, narrow thorax, lumbar lordosis, short limbs, and brachydactyly with small broad nails (Ozyavuz Cubuk and Duz, 2021).
Multiple epiphyseal dysplasia type 5
MedGen UID:
335542
Concept ID:
C1846843
Disease or Syndrome
Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise. Affected children complain of fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis, particularly of the large weight-bearing joints.
X-linked spondyloepimetaphyseal dysplasia
MedGen UID:
376281
Concept ID:
C1848097
Disease or Syndrome
A rare genetic primary bone dysplasia disorder with characteristics of disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flared, irregular, cupped metaphyses.
Spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness
MedGen UID:
355893
Concept ID:
C1865022
Disease or Syndrome
Skeletal dysplasia with delayed epiphyseal and carpal bone ossification
MedGen UID:
356650
Concept ID:
C1866939
Disease or Syndrome
Immunoskeletal dysplasia with neurodevelopmental abnormalities
MedGen UID:
1381460
Concept ID:
C4479452
Disease or Syndrome
Hyperphosphatasia with intellectual disability syndrome 1
MedGen UID:
1647044
Concept ID:
C4551502
Disease or Syndrome
Hyperphosphatasia with impaired intellectual development syndrome-1 (HPMRS1) is an autosomal recessive disorder characterized by impaired intellectual development, various neurologic abnormalities such as seizures and hypotonia, and hyperphosphatasia. Other features include facial dysmorphism and variable degrees of brachytelephalangy (summary by Krawitz et al., 2010). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 (610293). Genetic Heterogeneity of Hyperphosphatasia with Impaired Intellectual Development Syndrome See also HPMRS2 (614749), caused by mutation in the PIGO gene (614730) on chromosome 9p13; HPMRS3 (614207), caused by mutation in the PGAP2 gene (615187) on chromosome 11p15; HPMRS4 (615716), caused by mutation in the PGAP3 gene (611801) on chromosome 17q12; HPMRS5 (616025), caused by mutation in the PIGW gene (610275) on chromosome 17q12; and HPMRS6 (616809), caused by mutation in the PIGY gene (610662) on chromosome 4q22. Knaus et al. (2018) provided a review of the main clinical features of the different types of HPMRS, noting that some patients have a distinct pattern of facial anomalies that can be detected by computer-assisted comparison, particularly those with mutations in the PIGV and PGAP3 genes. Individuals with HPMRS have variable increased in alkaline phosphatase (AP) as well as variable decreases in GPI-linked proteins that can be detected by flow cytometry. However, there was no clear correlation between AP levels or GPI-linked protein abnormalities and degree of neurologic involvement, mutation class, or gene involved. Knaus et al. (2018) concluded that a distinction between HPMRS and MCAHS (see, e.g., 614080), which is also caused by mutation in genes involved in GPI biosynthesis, may be artificial and even inaccurate, and that all these disorders should be considered and classified under the more encompassing term of 'GPI biosynthesis defects' (GPIBD).
Anauxetic dysplasia 1
MedGen UID:
1638106
Concept ID:
C4551965
Disease or Syndrome
The cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD) spectrum disorders are a continuum that includes the following phenotypes: Metaphyseal dysplasia without hypotrichosis (MDWH). Cartilage-hair hypoplasia (CHH). Anauxetic dysplasia (AD). CHH-AD spectrum disorders are characterized by severe disproportionate (short-limb) short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities. Other findings include joint hypermobility, fine silky hair, immunodeficiency, anemia, increased risk for malignancy, gastrointestinal dysfunction, and impaired spermatogenesis. The most severe phenotype, AD, has the most pronounced skeletal phenotype, may be associated with atlantoaxial subluxation in the newborn, and may include cognitive deficiency. The clinical manifestations of the CHH-AD spectrum disorders are variable, even within the same family.
Spondyloepimetaphyseal dysplasia, di rocco type
MedGen UID:
1646454
Concept ID:
C4693799
Disease or Syndrome
Spondyloepimetaphyseal dysplasia of the Di Rocco type (SEMDDR) is characterized by short stature, joint pain, and genu varum, as well as SEMD involving primarily the hips but also affecting the wrists, hands, knees, and ankles. Patients also exhibit variable degrees of metaphyseal and spine involvement (Di Rocco et al., 2018).
Spondyloepiphyseal dysplasia, kondo-fu type
MedGen UID:
1683128
Concept ID:
C5193071
Disease or Syndrome
The Kondo-Fu type of spondyloepiphyseal dysplasia (SEDKF) is characterized by severely retarded growth and skeletal anomalies, including spondyloepiphyseal dysplasia with associated kyphosis and reduced bone mineral density. Elevated levels of blood lysosomal enzymes have also been observed (Kondo et al., 2018).
Spondyloepimetaphyseal dysplasia with joint laxity, type 3
MedGen UID:
1677378
Concept ID:
C5193073
Disease or Syndrome
Spondyloepimetaphyseal dysplasia with joint laxity-3 (SEMDJL3) is characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age, and poorly ossified carpal and tarsal bones (Girisha et al., 2016). For a discussion of genetic heterogeneity of SEMD with joint laxity, see SEMDJL1 (271640).
Odontochondrodysplasia 1
MedGen UID:
1784281
Concept ID:
C5542277
Disease or Syndrome
Odontochondrodysplasia-1 (ODCD1) is characterized by mesomelic shortening of tubular bones, ligamentous laxity, and scoliosis, in association with dentinogenesis imperfecta involving both primary and secondary dentition. Affected individuals show variable severity. Radiologic features include trident pelvis, posteriorly flattened vertebrae, and brachydactyly with cone-shaped epiphyses (Maroteaux et al., 1996). Clinical variability and extraskeletal manifestations have been observed (Wehrle et al., 2019). Genetic Heterogeneity of Odontochondrodysplasia Odontochondrodysplasia-2 with hearing loss and diabetes (ODCD2; 619269) is caused by mutation in the TANGO1 gene (MIA3; 613455) on chromosome 1q41.
Cleidocranial dysplasia 2
MedGen UID:
1824016
Concept ID:
C5774243
Disease or Syndrome
Cleidocranial dysplasia-2 (CLCD2) is characterized by clavicular anomalies, ranging from unilateral 'clavicula bipartita' to bilateral clavicular aplasia, and dental anomalies, including delayed or absent eruption of deciduous teeth and supernumerary teeth. Skull abnormalities such as delayed closure of fontanels have been reported; other skeletal features include delayed bone age, short distal phalanges, and pseudoepiphyses of the metacarpals and/or metatarsals. Phenotypic variability, including intrafamilial, has been observed (Beyltjens et al., 2023). For a general phenotypic description and a discussion of genetic heterogeneity of cleidocranial dysplasia, see CLCD1 (119600).

Professional guidelines

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Daniš R, Hill M, Sedlak P
Homo 2018 May;69(3):139-145. Epub 2018 Jun 1 doi: 10.1016/j.jchb.2018.05.001. PMID: 30017377

Recent clinical studies

Etiology

Brannan PS, Gaston RG, Loeffler BJ, Lewis DR
J Hand Surg Am 2016 May;41(5):602-8. Epub 2016 Mar 22 doi: 10.1016/j.jhsa.2016.01.013. PMID: 27013317
Even L, Andersson B, Kriström B, Albertsson-Wikland K, Hochberg Z
Pediatr Res 2014 Jul;76(1):109-14. Epub 2014 Apr 14 doi: 10.1038/pr.2014.56. PMID: 24732105
Friedman T, Reed M, Elliott AM
Skeletal Radiol 2009 Jun;38(6):585-91. Epub 2009 Jan 30 doi: 10.1007/s00256-008-0638-x. PMID: 19183988
Cooper HA, Crowe J, Butler MG
Am J Med Genet 2000 May 1;92(1):33-9. doi: 10.1002/(sici)1096-8628(20000501)92:1<33::aid-ajmg6>3.0.co;2-u. PMID: 10797420Free PMC Article
Kristmundsdottir F, Burwell RG, Hall DJ, Marshall WA
Clin Orthop Relat Res 1986 Aug;(209):115-23. PMID: 3731584

Diagnosis

Peluso F, Caraffi SG, Contrò G, Valeri L, Napoli M, Carboni G, Seth A, Zuntini R, Coccia E, Astrea G, Bisgaard AM, Ivanovski I, Maitz S, Brischoux-Boucher E, Carter MT, Dentici ML, Devriendt K, Bellini M, Digilio MC, Doja A, Dyment DA, Farholt S, Ferreira CR, Wolfe LA, Gahl WA, Gnazzo M, Goel H, Grønborg SW, Hammer T, Iughetti L, Kleefstra T, Koolen DA, Lepri FR, Lemire G, Louro P, McCullagh G, Madeo SF, Milone A, Milone R, Nielsen JEK, Novelli A, Ockeloen CW, Pascarella R, Pippucci T, Ricca I, Robertson SP, Sawyer S, Falkenberg Smeland M, Stegmann S, Stumpel CT, Goel A, Taylor JM, Barbuti D, Soresina A, Bedeschi MF, Battini R, Cavalli A, Fusco C, Iascone M, Van Maldergem L, Venkateswaran S, Zuffardi O, Vergano S, Garavelli L, Bayat A
J Med Genet 2023 Nov 27;60(12):1224-1234. doi: 10.1136/jmg-2023-109141. PMID: 37586838Free PMC Article
Nguyen MK, Arkader A, Kaplan SL, Guariento A, Hong S, Moore ZR, Nguyen JC
Pediatr Radiol 2021 Aug;51(9):1690-1695. Epub 2021 Mar 30 doi: 10.1007/s00247-021-05052-5. PMID: 33783579
Tchio Tchoumba MA, Bai Y, Jin R, Yu X, Male M
Orthop Surg 2020 Feb;12(1):333-336. Epub 2019 Dec 6 doi: 10.1111/os.12546. PMID: 31808622Free PMC Article
Mégarbané A, Ghanem I, Le Merrer M
Am J Med Genet A 2003 Oct 15;122A(3):252-6. doi: 10.1002/ajmg.a.20262. PMID: 12966527
Cooper HA, Crowe J, Butler MG
Am J Med Genet 2000 May 1;92(1):33-9. doi: 10.1002/(sici)1096-8628(20000501)92:1<33::aid-ajmg6>3.0.co;2-u. PMID: 10797420Free PMC Article

Therapy

Daniš R, Hill M, Sedlak P
Homo 2018 May;69(3):139-145. Epub 2018 Jun 1 doi: 10.1016/j.jchb.2018.05.001. PMID: 30017377
Brannan PS, Gaston RG, Loeffler BJ, Lewis DR
J Hand Surg Am 2016 May;41(5):602-8. Epub 2016 Mar 22 doi: 10.1016/j.jhsa.2016.01.013. PMID: 27013317
Fadel RA, Salem AH, Ali MH, Abu-Saif AN
Anthropol Anz 2006 Jun;64(2):211-26. PMID: 16850772

Prognosis

Daniš R, Hill M, Sedlak P
Homo 2018 May;69(3):139-145. Epub 2018 Jun 1 doi: 10.1016/j.jchb.2018.05.001. PMID: 30017377
Krakow D, Vriens J, Camacho N, Luong P, Deixler H, Funari TL, Bacino CA, Irons MB, Holm IA, Sadler L, Okenfuss EB, Janssens A, Voets T, Rimoin DL, Lachman RS, Nilius B, Cohn DH
Am J Hum Genet 2009 Mar;84(3):307-15. Epub 2009 Feb 19 doi: 10.1016/j.ajhg.2009.01.021. PMID: 19232556Free PMC Article
McDonald K, Toms AP, Armon K, Johnson K, Marshall TJ
Skeletal Radiol 2007 Nov;36(11):1097-101. Epub 2007 Jul 6 doi: 10.1007/s00256-007-0346-y. PMID: 17618432
Fadel RA, Salem AH, Ali MH, Abu-Saif AN
Anthropol Anz 2006 Jun;64(2):211-26. PMID: 16850772
Kristmundsdottir F, Burwell RG, Harrison MH
Acta Orthop Scand 1987 Jun;58(3):277-9. doi: 10.3109/17453678709146484. PMID: 3630662

Clinical prediction guides

Nguyen MK, Arkader A, Kaplan SL, Guariento A, Hong S, Moore ZR, Nguyen JC
Pediatr Radiol 2021 Aug;51(9):1690-1695. Epub 2021 Mar 30 doi: 10.1007/s00247-021-05052-5. PMID: 33783579
Daniš R, Hill M, Sedlak P
Homo 2018 May;69(3):139-145. Epub 2018 Jun 1 doi: 10.1016/j.jchb.2018.05.001. PMID: 30017377
Krakow D, Vriens J, Camacho N, Luong P, Deixler H, Funari TL, Bacino CA, Irons MB, Holm IA, Sadler L, Okenfuss EB, Janssens A, Voets T, Rimoin DL, Lachman RS, Nilius B, Cohn DH
Am J Hum Genet 2009 Mar;84(3):307-15. Epub 2009 Feb 19 doi: 10.1016/j.ajhg.2009.01.021. PMID: 19232556Free PMC Article
Davis AP, Capecchi MR
Development 1996 Apr;122(4):1175-85. doi: 10.1242/dev.122.4.1175. PMID: 8620844
Kristmundsdottir F, Burwell RG, Harrison MH
Acta Orthop Scand 1987 Jun;58(3):277-9. doi: 10.3109/17453678709146484. PMID: 3630662

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