U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

X-linked chondrodysplasia punctata 1(CDPX1)

MedGen UID:
777171
Concept ID:
C3669395
Disease or Syndrome
Synonyms: Arylsulfatase E deficiency; CDPX1; Chondrodysplasia punctata 1, X-linked recessive; Chondrodysplasia punctata, brachytelephalangic; Chondrodysplasia punctata, X-linked recessive
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: 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.
 
Gene (location): ARSL (Xp22.33)
 
Monarch Initiative: MONDO:0010555
OMIM®: 302950
Orphanet: ORPHA79345

Disease characteristics

Excerpted from the GeneReview: Chondrodysplasia Punctata 1, X-Linked
X-linked chondrodysplasia punctata 1 (CDPX1) 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 involvement, cervical spine stenosis and instability, mixed conductive and sensorineural hearing loss, and intellectual disability. [from GeneReviews]
Authors:
Nancy E Braverman  |  Michael B Bober  |  Nicola Brunetti-Pierri, et. al.   view full author information

Clinical features

From HPO
Short distal phalanx of finger
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.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Anosmia
MedGen UID:
1950
Concept ID:
C0003126
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:
107838
Concept ID:
C0557874
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.
Epiphyseal stippling
MedGen UID:
349104
Concept ID:
C1859126
Finding
The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses.
Abnormality of the vertebral column
MedGen UID:
892426
Concept ID:
C4021789
Anatomical Abnormality
Any abnormality of the vertebral column.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Depressed nasal bridge
MedGen UID:
373112
Concept ID:
C1836542
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Short nasal septum
MedGen UID:
336799
Concept ID:
C1844857
Finding
Reduced superior to inferior length of the nasal septum.
Short nose
MedGen UID:
343052
Concept ID:
C1854114
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.
Ichthyosis
MedGen UID:
7002
Concept ID:
C0020757
Disease or Syndrome
An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.
Hypogonadism
MedGen UID:
5711
Concept ID:
C0020619
Disease or Syndrome
A decreased functionality of the gonad.
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVX-linked chondrodysplasia punctata 1

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
Gupta N, Ghosh M, Shukla R, Das GP, Kabra M
Clin Dysmorphol 2012 Jul;21(3):113-117. doi: 10.1097/MCD.0b013e32835439cd. PMID: 22581171

Diagnosis

Zhou L, Peng Y, Chen J, Xi H, Wang S, Kang G, Tang W, Xie W
BMC Med Genomics 2024 Oct 18;17(1):253. doi: 10.1186/s12920-024-02029-9. PMID: 39425194Free PMC Article
Woods E, Yates M, Kanani F, Balasubramanian M
Clin Dysmorphol 2022 Jul 1;31(3):132-135. Epub 2022 Mar 7 doi: 10.1097/MCD.0000000000000419. PMID: 35256563
Brimble E, Pacione M, Farrelly E, Stevenson DA, Ruzhnikov MRZ
Clin Dysmorphol 2018 Oct;27(4):151-153. doi: 10.1097/MCD.0000000000000231. PMID: 29912012
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

Therapy

Oba H, Takahashi J, Takano K, Inaba Y, Motobayashi M, Nishimura G, Kuraishi S, Shimizu M, Ikegami S, Futatsugi T, Uehara M, Kosho T, Kato H, Uno K
Spine (Phila Pa 1976) 2017 Dec 1;42(23):E1380-E1385. doi: 10.1097/BRS.0000000000002170. PMID: 28338574

Prognosis

Zhou L, Peng Y, Chen J, Xi H, Wang S, Kang G, Tang W, Xie W
BMC Med Genomics 2024 Oct 18;17(1):253. doi: 10.1186/s12920-024-02029-9. PMID: 39425194Free PMC Article
He G, Yin Y, Zhao J, Wang X, Yang J, Chen X, Ding L, Bai Y
BMC Pediatr 2019 Jul 23;19(1):250. doi: 10.1186/s12887-019-1629-x. PMID: 31337364Free PMC Article
Koç U, Karakaş P
Turk J Pediatr 2017;59(5):604-609. doi: 10.24953/turkjped.2017.05.018. PMID: 29745127
Weaver KN, El Hallek M, Hopkin RJ, Sund KL, Henrickson M, Del Gaudio D, Yuksel A, Acar GO, Bober MB, Kim J, Boyadjiev SA
Am J Med Genet A 2014 Apr;164A(4):1062-8. Epub 2014 Jan 23 doi: 10.1002/ajmg.a.36390. PMID: 24458983
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

He G, Yin Y, Zhao J, Wang X, Yang J, Chen X, Ding L, Bai Y
BMC Pediatr 2019 Jul 23;19(1):250. doi: 10.1186/s12887-019-1629-x. PMID: 31337364Free PMC Article
Weaver KN, El Hallek M, Hopkin RJ, Sund KL, Henrickson M, Del Gaudio D, Yuksel A, Acar GO, Bober MB, Kim J, Boyadjiev SA
Am J Med Genet A 2014 Apr;164A(4):1062-8. Epub 2014 Jan 23 doi: 10.1002/ajmg.a.36390. PMID: 24458983
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

Recent systematic reviews

Broeren E, Stover S, Bennett K, Giordano J, Galloway S, Lauzon J, Rust L, Suerink M, van Haeringen A; Australian Genomic Autopsy Study Team, Reimers R
Prenat Diagn 2024 Dec;44(13):1663-1670. Epub 2024 Sep 23 doi: 10.1002/pd.6649. PMID: 39313411

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...