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Chondrodysplasia punctata 1, X-linked recessive(CDPX1)

MedGen UID:
337102
Concept ID:
C1844853
Disease or Syndrome
Synonyms: Arylsulfatase E deficiency; CDPX1; Chondrodysplasia Punctata 1, X-Linked; Chondrodysplasia punctata, brachytelephalangic
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
425042
Concept ID:
CN001297
Genetic Function
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Gene: ARSE
Cytogenetic location: Xp22.33
OMIM: 302950; 602497

Disease characteristics

Excerpted from the GeneReview: Chondrodysplasia Punctata 1, X-Linked
X-linked chondrodysplasia punctata 1 (CDPX1), a congenital disorder of bone and cartilage development, is caused by a deficiency of the Golgi enzyme arylsulfatase E (ARSE). It is characterized by chondrodysplasia punctata (stippled epiphyses), brachytelephalangy (shortening of the distal phalanges), and nasomaxillary hypoplasia. Although most affected males have minimal morbidity and skeletal findings that improve by adulthood, some have significant medical problems including respiratory compromise, cervical spine stenosis and instability, mixed conductive and sensorineural hearing loss, and abnormal cognitive development. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Nancy E Braverman  |  Michael Bober  |  Nicola Brunetti-Pierri, et. al.   view full author information

Additional description

From GHR
X-linked chondrodysplasia punctata 1 is a disorder of cartilage and bone development that occurs almost exclusively in males. Chondrodysplasia punctata is an abnormality that appears on x-rays as spots (stippling) near the ends of bones and in cartilage. In most infants with X-linked chondrodysplasia punctata 1, this stippling is seen in bones of the ankles, toes, and fingers; however, it can also appear in other bones. The stippling generally disappears in early childhood. Other characteristic features of X-linked chondrodysplasia punctata 1 include short stature and unusually short fingertips and ends of the toes. This condition is also associated with distinctive facial features, particularly a flattened-appearing nose with crescent-shaped nostrils and a flat nasal bridge. People with X-linked chondrodysplasia punctata 1 typically have normal intelligence and a normal life expectancy. However, some affected individuals have had serious or life-threatening complications including abnormal thickening (stenosis) of the cartilage that makes up the airways, which restricts breathing. Also, abnormalities of spinal bones in the neck can lead to pinching (compression) of the spinal cord, which can cause pain, numbness, and weakness. Other, less common features of X-linked chondrodysplasia punctata 1 include delayed development, hearing loss, vision abnormalities, and heart defects.  http://ghr.nlm.nih.gov/condition/x-linked-chondrodysplasia-punctata-1

Clinical features

Hypogonadism
MedGen UID:
504359
Concept ID:
CN000131
Finding
A `decreased functionality` (PATO:0001624) of the `gonad` (FMA:18250).
Anosmia
MedGen UID:
504449
Concept ID:
CN000428
Finding
An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.
Short nose
MedGen UID:
505478
Concept ID:
CN002885
Finding
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Depressed nasal bridge
MedGen UID:
446656
Concept ID:
CN004681
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Hearing impairment
MedGen UID:
446352
Concept ID:
CN000341
Finding
A `decreased magnitude` (PATO:0002018) of the `sensory perception of sound` (GO:0007605).
Anosmia
MedGen UID:
504449
Concept ID:
CN000428
Finding
An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.
Global developmental delay
MedGen UID:
504774
Concept ID:
CN001157
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Hypogonadism
MedGen UID:
504359
Concept ID:
CN000131
Finding
A `decreased functionality` (PATO:0001624) of the `gonad` (FMA:18250).
Abnormality of the vertebral column
MedGen UID:
446382
Concept ID:
CN000867
Finding
Any abnormality of the `vertebral column` (FMA:13478).
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).
Epiphyseal stippling
MedGen UID:
429599
Concept ID:
CN009481
Finding
The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses (FMA:24012).
Ichthyosis
MedGen UID:
429191
Concept ID:
CN007091
Finding
An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.

Recent clinical studies

Etiology

Matos-Miranda C, Nimmo G, Williams B, Tysoe C, Owens M, Bale S, Braverman N
Genet Med 2013 Aug;15(8):650-7. Epub 2013 Mar 7 doi: 10.1038/gim.2013.13. [Epub ahead of print] PMID: 23470839
Jeon GW, Kwon MJ, Lee SJ, Sin JB, Ki CS
Ann Clin Lab Sci 2013 Winter;43(1):70-5. PMID: 23462608
Gupta N, Ghosh M, Shukla R, Das GP, Kabra M
Clin Dysmorphol 2012 Jul;21(3):113-7. doi: 10.1097/MCD.0b013e32835439cd. PMID: 22581171

Diagnosis

Boulet S, Dieterich K, Althuser M, Nugues F, Durand C, Charra C, Schaal JP, Jouk PS
Fetal Diagn Ther 2010;28(3):186-90. Epub 2010 Jun 3 doi: 10.1159/000297289. [Epub ahead of print] PMID: 20523025

Prognosis

Matos-Miranda C, Nimmo G, Williams B, Tysoe C, Owens M, Bale S, Braverman N
Genet Med 2013 Aug;15(8):650-7. Epub 2013 Mar 7 doi: 10.1038/gim.2013.13. [Epub ahead of print] PMID: 23470839

Clinical prediction guides

Matos-Miranda C, Nimmo G, Williams B, Tysoe C, Owens M, Bale S, Braverman N
Genet Med 2013 Aug;15(8):650-7. Epub 2013 Mar 7 doi: 10.1038/gim.2013.13. [Epub ahead of print] PMID: 23470839

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