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Diastrophic dysplasia(DTD)

MedGen UID:
113103
Concept ID:
C0220726
Congenital Abnormality; Disease or Syndrome
Synonyms: Diastrophic dwarfism; DTD
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: DTD - Diastrophic dysplasia (58561002); Diastrophic dysplasia syndrome (58561002); DD - Diastrophic dysplasia (58561002); Diastrophic dwarfism (58561002); Diastrophic dysplasia (58561002); Diastrophic nanism syndrome (58561002); Diastrophic dwarf (58561002)
 
Gene (location): SLC26A2 (5q32)
OMIM®: 222600
Orphanet: ORPHA628

Disease characteristics

Excerpted from the GeneReview: Diastrophic Dysplasia
Diastrophic dysplasia (DTD) is characterized by limb shortening, normal-sized skull, hitchhiker thumbs, spinal deformities (scoliosis, exaggerated lumbar lordosis, cervical kyphosis), and contractures of the large joints with deformities and early-onset osteoarthritis. Other typical findings are ulnar deviation of the fingers, gap between the first and second toes, and clubfoot. On occasion the disease can be lethal at birth, but most affected individuals survive the neonatal period and develop physical limitations with normal intelligence. [from GeneReviews]
Authors:
Luisa Bonafé  |  Lauréane Mittaz-Crettol  |  Diana Ballhausen, et. al.   view full author information

Additional description

From GHR
Diastrophic dysplasia is a disorder of cartilage and bone development. Affected individuals have short stature with very short arms and legs. Most also have early-onset joint pain (osteoarthritis) and joint deformities called contractures, which restrict movement. These joint problems often make it difficult to walk and tend to worsen with age. Additional features of diastrophic dysplasia include an inward- and upward-turning foot (clubfoot), progressive abnormal curvature of the spine, and unusually positioned thumbs (hitchhiker thumbs). About half of infants with diastrophic dysplasia are born with an opening in the roof of the mouth (a cleft palate). Swelling of the external ears is also common in newborns and can lead to thickened, deformed ears.The signs and symptoms of diastrophic dysplasia are similar to those of another skeletal disorder called atelosteogenesis type 2; however, diastrophic dysplasia tends to be less severe. Although some affected infants have breathing problems, most people with diastrophic dysplasia live into adulthood.  https://ghr.nlm.nih.gov/condition/diastrophic-dysplasia

Clinical features

Glabellar hemangioma
MedGen UID:
340224
Concept ID:
C1854408
Neoplastic Process
Talipes equinovarus
MedGen UID:
3130
Concept ID:
C0009081
Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
Ulnar deviation of finger
MedGen UID:
68543
Concept ID:
C0231679
Finding
Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.
Short finger
MedGen UID:
334977
Concept ID:
C1844548
Anatomical Abnormality
Abnormally short finger associated with developmental hypoplasia.
Hitchhiker thumb
MedGen UID:
347404
Concept ID:
C1857269
Disease or Syndrome
With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand.
Spinal cord compression
MedGen UID:
11549
Concept ID:
C0037926
Disease or Syndrome
External mechanical compression of the spinal cord.
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Hip contracture
MedGen UID:
140815
Concept ID:
C0409354
Acquired Abnormality
Hoarse voice
MedGen UID:
5602
Concept ID:
C0019825
Sign or Symptom
Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.
Ulnar deviation of finger
MedGen UID:
68543
Concept ID:
C0231679
Finding
Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.
Hip contracture
MedGen UID:
140815
Concept ID:
C0409354
Acquired Abnormality
Hypoplastic cervical vertebrae
MedGen UID:
372079
Concept ID:
C1835570
Finding
Short finger
MedGen UID:
334977
Concept ID:
C1844548
Anatomical Abnormality
Abnormally short finger associated with developmental hypoplasia.
Irregular epiphyses
MedGen UID:
337584
Concept ID:
C1846449
Finding
An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance.
short long bones
MedGen UID:
344385
Concept ID:
C1854912
Finding
One or more abnormally short long bone.
Hitchhiker thumb
MedGen UID:
347404
Concept ID:
C1857269
Disease or Syndrome
With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand.
Flattened epiphysis
MedGen UID:
387844
Concept ID:
C1857527
Finding
Abnormal flatness (decreased height) of epiphyses.
Hip contracture
MedGen UID:
140815
Concept ID:
C0409354
Acquired Abnormality

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDiastrophic dysplasia
Follow this link to review classifications for Diastrophic dysplasia in Orphanet.

Recent clinical studies

Etiology

Monti L, Paganini C, Lecci S, De Leonardis F, Hay E, Cohen-Solal M, Villani S, Superti-Furga A, Tenni R, Forlino A, Rossi A
Hum Mol Genet 2015 Oct 1;24(19):5570-80. Epub 2015 Jul 23 doi: 10.1093/hmg/ddv289. PMID: 26206888
Lagoy JS, Kofford ND, Gosselin BJ, Russell MA, Morley BD
A A Case Rep 2015 Jul 1;5(1):6-8. doi: 10.1213/XAA.0000000000000162. PMID: 26125691
Anbazhagan A, Benakappa A
J Pediatr 2014 Jun;164(6):1493-4. Epub 2014 Mar 25 doi: 10.1016/j.jpeds.2014.02.034. PMID: 24679608
Krüger L, Pohjolainen T, Kaitila I, Kautiainen H, Arkela-Kautiainen M, Hurri H
J Rehabil Med 2013 Mar;45(3):308-13. doi: 10.2340/16501977-1116. PMID: 23389768
Cushing SL, Swanson RL, Sie KC
Int J Pediatr Otorhinolaryngol 2011 May;75(5):713-5. Epub 2011 Mar 17 doi: 10.1016/j.ijporl.2011.02.003. PMID: 21414669

Diagnosis

Al Kaissi A, Kenis V, Melchenko E, Chehida FB, Ganger R, Klaushofer K, Grill F
Orthop Surg 2014 Nov;6(4):274-9. doi: 10.1111/os.12146. PMID: 25430710
Anbazhagan A, Benakappa A
J Pediatr 2014 Jun;164(6):1493-4. Epub 2014 Mar 25 doi: 10.1016/j.jpeds.2014.02.034. PMID: 24679608
Zechi-Ceide RM, Moura PP, Raskin S, Richieri-Costa A, Guion-Almeida ML
Am J Med Genet A 2013 Aug;161A(8):2088-94. Epub 2013 Jul 9 doi: 10.1002/ajmg.a.36057. PMID: 23840040
Honório JC, Bruns RF, Gründtner LF, Raskin S, Ferrari LP, Araujo Júnior E, Nardozza LM
Sao Paulo Med J 2013;131(2):127-32. PMID: 23657516
Cushing SL, Swanson RL, Sie KC
Int J Pediatr Otorhinolaryngol 2011 May;75(5):713-5. Epub 2011 Mar 17 doi: 10.1016/j.ijporl.2011.02.003. PMID: 21414669

Therapy

Monti L, Paganini C, Lecci S, De Leonardis F, Hay E, Cohen-Solal M, Villani S, Superti-Furga A, Tenni R, Forlino A, Rossi A
Hum Mol Genet 2015 Oct 1;24(19):5570-80. Epub 2015 Jul 23 doi: 10.1093/hmg/ddv289. PMID: 26206888
Jalanko T, Remes V, Peltonen J, Poussa M, Helenius I
Spine (Phila Pa 1976) 2009 Sep 15;34(20):2151-7. doi: 10.1097/BRS.0b013e31819c133f. PMID: 19752701
Remes V, Poussa M, Lönnqvist T, Puusa A, Tervahartiala P, Helenius I, Peltonen J
J Pediatr Orthop 2004 Sep-Oct;24(5):546-51. PMID: 15308906
Helenius I, Remes V, Tallroth K, Peltonen J, Poussa M, Paavilainen T
J Bone Joint Surg Am 2003 Mar;85-A(3):441-7. PMID: 12637429
Shapiro F
Calcif Tissue Int 1992 Oct;51(4):324-31. PMID: 1422977

Prognosis

Honório JC, Bruns RF, Gründtner LF, Raskin S, Ferrari LP, Araujo Júnior E, Nardozza LM
Sao Paulo Med J 2013;131(2):127-32. PMID: 23657516
Cushing SL, Swanson RL, Sie KC
Int J Pediatr Otorhinolaryngol 2011 May;75(5):713-5. Epub 2011 Mar 17 doi: 10.1016/j.ijporl.2011.02.003. PMID: 21414669
Dwyer E, Hyland J, Modaff P, Pauli RM
Am J Med Genet A 2010 Dec;152A(12):3043-50. doi: 10.1002/ajmg.a.33736. PMID: 21077202
Szczepaniak-Kubat A, Tesiorowski M, Merc-Gołebiowska Z, Jakubowska-Pietkiewicz E
Ortop Traumatol Rehabil 2010 May-Jun;12(3):257-63. PMID: 20693580
Jalanko T, Remes V, Peltonen J, Poussa M, Helenius I
Spine (Phila Pa 1976) 2009 Sep 15;34(20):2151-7. doi: 10.1097/BRS.0b013e31819c133f. PMID: 19752701

Clinical prediction guides

Monti L, Paganini C, Lecci S, De Leonardis F, Hay E, Cohen-Solal M, Villani S, Superti-Furga A, Tenni R, Forlino A, Rossi A
Hum Mol Genet 2015 Oct 1;24(19):5570-80. Epub 2015 Jul 23 doi: 10.1093/hmg/ddv289. PMID: 26206888
Zechi-Ceide RM, Moura PP, Raskin S, Richieri-Costa A, Guion-Almeida ML
Am J Med Genet A 2013 Aug;161A(8):2088-94. Epub 2013 Jul 9 doi: 10.1002/ajmg.a.36057. PMID: 23840040
Krüger L, Pohjolainen T, Kaitila I, Kautiainen H, Arkela-Kautiainen M, Hurri H
J Rehabil Med 2013 Mar;45(3):308-13. doi: 10.2340/16501977-1116. PMID: 23389768
Dwyer E, Hyland J, Modaff P, Pauli RM
Am J Med Genet A 2010 Dec;152A(12):3043-50. doi: 10.1002/ajmg.a.33736. PMID: 21077202
Weiner DS, Jonah D, Kopits S
J Pediatr Orthop 2010 Jun;30(4):403-10. doi: 10.1097/BPO.0b013e3181e27f12. PMID: 20502243

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