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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:
375779
Concept ID:
C1845977
Finding
Sources: HPO, OMIM, Orphanet
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.
X-linked recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): ARSE (Xp22.33)
OMIM®: 302950
Orphanet: ORPHA79345

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 intellectual disability.  [from GeneReviews]
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.  https://ghr.nlm.nih.gov/condition/x-linked-chondrodysplasia-punctata-1

Clinical features

Hypogonadism
MedGen UID:
5711
Concept ID:
C0020619
Disease or Syndrome
Condition resulting from deficient gonadal functions, such as GAMETOGENESIS and the production of GONADAL STEROID HORMONES. It is characterized by delay in GROWTH, germ cell maturation, and development of secondary sex characteristics. Hypogonadism can be due to a deficiency of GONADOTROPINS (hypogonadotropic hypogonadism) or due to primary gonadal failure (hypergonadotropic hypogonadism).
Short distal phalanges
MedGen UID:
326590
Concept ID:
C1839829
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.
Anosmia
MedGen UID:
1950
Concept ID:
C0003126
Sign or Symptom
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.
Microcephalus
MedGen UID:
44422
Concept ID:
C0025958
Congenital Abnormality
Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Global developmental delay
MedGen UID:
351243
Concept ID:
C1864897
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.
Short distal phalanges
MedGen UID:
326590
Concept ID:
C1839829
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.
Epiphyseal stippling
MedGen UID:
349104
Concept ID:
C1859126
Anatomical Abnormality
The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses (FMA:24012).
Abnormality of the vertebral column
MedGen UID:
892426
Concept ID:
C4021789
Anatomical Abnormality
Any abnormality of the vertebral column.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChondrodysplasia punctata 1, X-linked recessive
Follow this link to review classifications for Chondrodysplasia punctata 1, X-linked recessive in Orphanet.

Recent clinical studies

Etiology

Ochiai D, Takamura K, Nishimura G, Ikeda T, Yakubo K, Fukuiya T
Congenit Anom (Kyoto) 2013 Dec;53(4):160-2. doi: 10.1111/cga.12003. PMID: 24712475
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. 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

Ochiai D, Takamura K, Nishimura G, Ikeda T, Yakubo K, Fukuiya T
Congenit Anom (Kyoto) 2013 Dec;53(4):160-2. doi: 10.1111/cga.12003. PMID: 24712475
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. 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. 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. PMID: 23470839

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