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Chondrodysplasia Punctata


Chondrodysplasia punctata is a term encompassing a group of inherited skeletal dysplasias characterized by calcified deposits on the epiphyseal parts of the bone and cartilage, and they are termed stippling. The clinical presentation somewhat depends on the subtype, but commonly involves shortening of the extremities, facial changes, spinal deformities, ocular abnormalities, developmental delay and congenital heart disease. The diagnosis rests on a thorough clinical workup, imaging studies, and genetic testing.


Chondrodysplasia punctata (CDP) is a term that comprises several congenital disorders with different modes of inheritance. They are rarely encountered in clinical practice and the two principal types are [1] [2] [3]:

Wound Infection
  • This last patient required a third operation 9 months after the second because of deep wound infection.[ncbi.nlm.nih.gov]
  • We report on a 14-month-old boy who presented with respiratory stridor due to tracheal calcifications. He had mild midface hypoplasia and brachytelephalangy, but lacked other features of CDPX1, such as short stature and epiphyseal stippling.[ncbi.nlm.nih.gov]
  • Growth measures Developmental assessment Hearing assessment Assessment of upper and lower airways if stridor is present Polysomnography Ophthalmologic evaluation Cardiac ultrasound examination Brain imaging studies Consultation with a clinical geneticist[ncbi.nlm.nih.gov]
Failure to Thrive
  • Abstract Rhizomelic chondrodysplasia punctata is a rare genetic disorder of peroxisomal metabolism that is characterized clinically by shortening of the proximal limbs, cataracts, a characteristic facial appearance, failure to thrive, and psychomotor[ncbi.nlm.nih.gov]
  • […] sepsis • Weight at death 2.5 kg (Failure to thrive) 6. Second Child • Antenatal history - ? Polyhydramnios • Term born/3.5kgs/Respiratory distress at birth Nicu stay x 20 days.[slideshare.net]
  • All affected infants have severe failure to thrive, mental retardation, joint contractures, and cataracts.[mhmedical.com]
Bowing of The Long Bones
  • Postnatal X-rays and examination showed ichthyosis (8/9) and epiphyseal stippling (9/9), with frequent asymmetric short and bowed long bones.[ncbi.nlm.nih.gov]
  • In addition, subtle follicular atrophoderma, esotropia, craniofacial asymmetry and short stature were noted. Her history revealed widespread scaly erythema and eye surgery for congenital cataract in the first months of life.[ncbi.nlm.nih.gov]
  • A 5-year-old girl presented for evaluation of ill-defined patches of cicatricial alopecia. In addition, subtle follicular atrophoderma, esotropia, craniofacial asymmetry and short stature were noted.[ncbi.nlm.nih.gov]
  • X-linked dominant chondrodysplasia punctata (CDPX2) is a skeletal dysplasia characterized by stippled epiphyses, cataracts, alopecia and skin lesions, including ichthyosis.[ncbi.nlm.nih.gov]
  • A subtype of CDP, X-linked dominant chondrodysplasia punctata (CDPX2), known also as Conradi-Hünermann-Happle syndrome, is a rare skeletal dysplasia characterized by short stature, craniofacial defects, cataracts, ichthyosis, coarse hair, and alopecia[ncbi.nlm.nih.gov]
  • . · Cutaneus abnormalities: ichthyosis and hyperkeratosis; alopecia; layered and split nails. Prognosis - Chondrodysplasia punctata Not supplied. Treatment - Chondrodysplasia punctata Not supplied. Resources - Chondrodysplasia punctata Not supplied.[checkorphan.org]
  • Ectodermal changes include alopecia, cataract, ichthyosis and hyperkeratosis.[ijri.org]
Dry Hair
  • He had dry hair, a flat face, bilateral lens opacities, a small nose with hypoplastic tip, alae nasi and nares, a high-arched palate with a very small cleft, mixed dentition with 7 unerupted permanent teeth, left sensorineural and right mixed hearing[ncbi.nlm.nih.gov]
  • Symptoms - Chondrodysplasia punctata Symptoms include growth retardation, shortening of limbs, cataracts, dry and scaly skin (Ichthyosis), large skin pores and patches of coarse, dry hair. Patients may also become mildly retarded.[checkorphan.org]
Myoclonic Jerking
  • Myoclonic jerks, followed by atypical absences were most frequently observed. All patients with clinical seizures had interictal encephalographic evidence of epilepsy.[ncbi.nlm.nih.gov]


The rare occurrence of CDP in general practice (< 1 in 100,000 patients) indicates that the condition may be difficult to diagnose without a thorough workup [8]. For this reason, physicians must perform a complete neurological, cardiorespiratory, and mental examination, preceded by a patient history that will evaluate the potential presence of similar disorders within the family [6]. After the initial assessment, imaging studies should be performed. Ultrasonography and plain radiography are two very useful first-line methods that are able to confirm the presence of epiphyseal stippling and punctate calcifications, as well as hypoplasia of facial bones and the distal extremities [1] [5]. Ultrasonography provides an additional benefit in that, it has the ability to detect changes prenatally [1], thus providing sufficient time to plan adequate therapeutic strategies. Moreover, cardiac ultrasonography (both prenatally and postnatally) has been recommended as a mandatory imaging study in CDP patients due to the high rate of congenital heart disease [3]. A comprehensive neurological testing, particularly in the presence of epilepsy (through electroencephalography, evoked potentials, and other similar studies), is also warranted [8]. Finally, genetic testing of both the parents and the patient should be conducted [6] [9].


  • There were two deaths reported, one resulting from conservative treatment and one from surgical treatment.[ncbi.nlm.nih.gov]
  • CONCLUSIONS: Spinal deformity in CPD patients may range from significant kyphoscoliosis to minimal deformity that does not require any treatment.[ncbi.nlm.nih.gov]
  • Management and treatment There is no specific treatment for the enzyme defect. Prognosis Rhizomelic chondrodysplasia has a severe prognosis with death generally occurring during the first decade of life, mainly due to respiratory complications.[orpha.net]
  • Management and treatment Treatment should be adapted depending on the form of chondrodysplasia punctata present. Prognosis Prognosis is very variable. The documents contained in this web site are presented for information purposes only.[orpha.net]


  • Within the heterogeneous group of chondrodysplasia punctata, the brachytelephalangic type is noteworthy because it has a better prognosis than do the other types.[ncbi.nlm.nih.gov]
  • Imaging of the brain and spinal cord in patients with this disorder may aid prognosis and guide management decisions.[ncbi.nlm.nih.gov]
  • This article presents a case report of type I RCDP, as well as describes genetic influences, symptoms, diagnosis, management, and prognosis.[ncbi.nlm.nih.gov]
  • These data suggest that the longterm clinical and functional prognosis in this condition appears to be better than that expected based on initial clinical and radiological findings.[ncbi.nlm.nih.gov]
  • High cholesterol diet normalized cholesterol level (3.28 mmol/l) but it had no influence on the unfavourable prognosis of the disease.[ncbi.nlm.nih.gov]


  • Maternal etiologies were not reported in most patients. CONCLUSION: CDPX1 is caused by loss of arylsulfatase E activity.[ncbi.nlm.nih.gov]
  • Chondrodysplasia punctata (CDP) is etiologically a heterogeneous condition and has been associated with single gene disorders, chromosome abnormalities and teratogenic exposures.[ncbi.nlm.nih.gov]
  • The main etiologies are metabolic and chromosomal abnormalities, and arylsulfatase E enzyme dysfunction.[ncbi.nlm.nih.gov]
  • Many genetic and nongenetic causes have been described leading to a preliminar etiological classification into defects of peroxisomal metabolism, defects in cholesterol metabolism, and vitamin K (vit K) metabolism.[ncbi.nlm.nih.gov]
  • BACKGROUND: Chondrodysplasia punctata (CDP) is a common manifestation of an etiologically heterogenous group of disorders. There is very little data regarding the development and management of spinal deformity in patients with CDP.[ncbi.nlm.nih.gov]


  • Summary Epidemiology Prevalence of the rhizomelic type is estimated at 1 in 100,000.[orpha.net]
  • Summary Epidemiology he overall prevalence of these diseases as a group is unknown.[orpha.net]
  • Summary Epidemiology The prevalence of BCDP is not available. A birth prevalence estimate of 1/500,000 newborns has been put forward. The genetic BCDP due to ARSE alterations is pan-ethnic and occurs almost exclusively in males.[orpha.net]
  • Sarcoidosis 514 28 Storage and Deposition Diseases 523 29 The Amyloidoses 533 30 Neoplasms of the Joint 543 31 Heritable Disorders of Connective Tissue 549 32 Bone and Joint Dysplasias 559 33 Osteonecrosis 565 34 Pagets Disease of Bone 573 35 Osteoporosis A Epidemiology[books.google.es]
Sex distribution
Age distribution


  • Plasmalogen levels seem to play an important role in the pathophysiology of CNS abnormalities in RCDP. Increased phytanic acid appears not to be the cause of cerebellar atrophy.[ncbi.nlm.nih.gov]
  • The condition is acquired in an autosomal recessive manner. [1] Pathophysiology [ edit ] The mechanism of rhizomelic chondrodysplasia punctata in the case of type 1 of this condition one finds that peroxisome objective is PEX7, in peroxisome assembly.[en.wikipedia.org]


  • This study emphasizes the need for careful neurological and surgical evaluation of pediatric patients with cervical spine abnormalities affected by CDP or CE in order to prevent progressive instability.[ncbi.nlm.nih.gov]
  • In order to prevent morbidity and mortality, early imaging with CT and MRI is recommended.[ncbi.nlm.nih.gov]
  • Prevention - Chondrodysplasia punctata Not supplied.[checkorphan.org]
  • The main goals for physical therapy are to prevent secondary impairments of RCDP. [3] Improve contractures related to RCDP Prevention of respiratory complications Management of spasticity Provide cognitive stimulation Can also be a referral source for[physio-pedia.com]



  1. Benaicha A, Dommergues M, Jouannic JM, et al. Prenatal diagnosis of brachytelephalangic chondrodysplasia punctata: case report. Ultrasound Obstet Gynecol. 2009;34(6):724-726.
  2. Gupta N, Ghosh M, Shukla R, Das GP, Kabra M. Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype. Clin Dysmorphol. 2012 Jul;21(3):113-117.
  3. Huffnagel IC, Clur SA, Bams-Mengerink AM, et al. Rhizomelic chondrodysplasia punctata and cardiac pathology. J Med Genet. 2013;50(7):419-424.
  4. Casarin A, Rusalen F, Doimo M, et al. X-linked brachytelephalangic chondrodysplasia punctata: a simple trait that is not so simple. Am J Med Genet A. 2009;149A(11):2464-2468.
  5. Goussard P, Andronikou S, Semakula-Katende NS, Gie R. Calcification and airway stenosis in a child with chondrodysplasia calcificans punctata. BMJ Case Rep. 2014;2014:bcr2014205087.
  6. Mahale Y, Kadu VV, Chaudhari A. Rare Case of Rhizomelic Chondrodysplasia Punctata. J Orthop Case Rep. 2015;5(3):38-40.
  7. Braverman NE, Moser AB, Steinberg SJ. Rhizomelic Chondrodysplasia Punctata Type 1. 2001 Nov 16 [Updated 2012 Sep 13]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1270/
  8. Bams-Mengerink AM, Koelman JH, Waterham H, Barth PG, Poll-The BT. The neurology of rhizomelic chondrodysplasia punctata. Orphanet J Rare Dis. 2013;8:174.
  9. Çim A, Coşkun S, Görükmez O, et al. Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene. J Clin Res Pediatr Endocrinol. 2015;7(1):69-72.
  10. Tinnion RJ, Davidson N, Moran P, Wright M, Harigopal S. Rhizomelic chondrodysplasia punctata: a classic “spot” diagnosis. BMJ Case Rep. 2011;2011:bcr0120113747.
  11. Mason DE, Sanders JO, MacKenzie WG, Nakata Y, Winter R. Spinal deformity in chondrodysplasia punctata. Spine (Phila Pa 1976). 2002;15;27(18):1995-2002.

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Last updated: 2019-06-28 10:14