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]:

• Brachytelephalangic chondrodysplasia punctata - Considered as a benign form of CDP, Brachytelephalangic CDP occurs due to arylsulfatase E (ARSE) gene mutations that are transferred through X-linked recessive patterns [1] [2] [4] [5]. As a result, this type is seen almost exclusively in boys [5]. The distal phalanges of the feet and hands exhibit significant shortening (brachytelephalangy), whereas hypoplasia of the midface and the nasal bones are notable facial features [2] [4] [5]. Patients suffering from this type of CDP do not develop dwarfism or ocular abnormalities, which is typical for more severe forms of CDP - Rhizomelic CDP [1].
• Rhizomelic chondrodysplasia punctata (RCDP) - Arising due to disruption of normal synthesis of peroxisomes (vital cell membrane constituents) through PEX7 gene mutations, this autosomal recessive type of CDP is distinguished by the presence of early-onset mental retardation and a short stature that predominantly involves the humerus and the femur (termed rhizomelia) [3] [6] [7] [8] [9]. Facial dysmorphism is more pronounced than in brachytelephalangic CDP, whereas congenital heart disease (seen in up to 50% of patients), cataracts, recurrent respiratory infections, seizures and an overall shorter life span are additional features [3] [5] [6] [8] [10]. Spinal deformities, such as scoliosis, are seen across all forms of CDP [11].

• Recurrent Otitis Media

  Spasticity, psychomotor retardation, growth retardation, seizures, thermoregulatory instability, feeding difficulty, recurrent otitis media, and pneumonia have been reported in CDP cases [11]. [hindawi.com]

• Failure to Thrive

  Microcephaly, contractures, and postnatal failure to thrive are also typical. Radiographic Findings. The epiphyseal and extraepiphyseal calcifications are usually severe, with a symmetric distribution sparing the vertebral column. [musculoskeletalkey.com]

  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. [de.slideshare.net]

• Alopecia

  Patterned ichthyosis, coarse and lusterless hair, and cicatricial alopecia become evident later. [musculoskeletalkey.com]

  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]

  Patchy areas of cicatricial alopecia are common. Asymmetric shortening of the limbs, usually affecting the humerus and femur, together with CDP, are the most common skeletal abnormalities. [orpha.net]

  […] in males, is characterized by asymmetrical skeletal abnormalities with short stature, shortening of the long bones, dysplasia and contracture of joints, and scoliosis together with flat nasal bridge, congenital ichthyosiform erythroderma, cicatricial alopecia [eurorad.org]

• Lower Extremity Spasticity

  Because patients with RCDP often demonstrate upper and lower extremity spasticity in the absence of spinal cord involvement, diagnosis of cervical spinal stenosis secondary to RCDP may be difficult. [hindawi.com]

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].

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]

Although there is no specific treatment or cure for CDPX1, there are ways to manage symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person.[1126][12020] For more information, visit GARD. [rarediseases.org]

There were two deaths reported, one resulting from conservative treatment and one from surgical treatment. [ncbi.nlm.nih.gov]

Treatment and prognosis While prognosis is variable, the rhizomelic forms can be lethal 3. [radiopaedia.org]

Prognosis Prognosis is very variable. The documents contained in this web site are presented for information purposes only. [orpha.net]

What is the prognosis for a person with Rhizomelic Chondrodysplasia Punctata Type 1? The prognosis for a child with the classic form of RCDP1 is poor. Many die in the first or second year of life, and few survive beyond the age of 10. [myriad.com]

Maternal etiologies were not reported in most patients. CONCLUSION: CDPX1 is caused by loss of arylsulfatase E activity. [ncbi.nlm.nih.gov]

Etiology X-linked dominant chondrodysplasia punctata is transmitted in an X-linked dominant manner and is caused by mutations in the EBP gene encoding an enzyme involved in cholesterol metabolism. [orpha.net]

Summary Epidemiology The overall prevalence of these diseases as a group is unknown. [orpha.net]

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]

Historical Perspective Classification Type 1 is associated with PEX7 Type 2 is associated with DHAPAT Type 3 is associated with AGPS (gene) Pathophysiology Causes Differentiating Rhizomelic chondrodysplasia punctata from Other Diseases Epidemiology and [wikidoc.org]

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]

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]

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]

Prevention - Chondrodysplasia punctata Not supplied. [checkorphan.org]

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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.
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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.