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Diastrophic dysplasia(DTD)

MedGen UID:
113103
Concept ID:
C0220726
Disease or Syndrome
Synonyms: Diastrophic dwarfism; DTD
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)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): SLC26A2 (5q32)
 
Monarch Initiative: MONDO:0009107
OMIM®: 222600
Orphanet: ORPHA628

Disease characteristics

Excerpted from the GeneReview: Diastrophic Dysplasia
Diastrophic dysplasia (DTD) is characterized by limb shortening, normal-sized head, 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:
Sheila Unger  |  Andrea Superti-Furga   view full author information

Additional description

From MedlinePlus Genetics
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://medlineplus.gov/genetics/condition/diastrophic-dysplasia

Clinical features

From HPO
Glabellar hemangioma
MedGen UID:
340224
Concept ID:
C1854408
Neoplastic Process
Clubfoot
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.
Hitchhiker thumb
MedGen UID:
609206
Concept ID:
C0431887
Congenital Abnormality
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.
Genu valgum
MedGen UID:
154364
Concept ID:
C0576093
Anatomical Abnormality
The legs angle inward, such that the knees are close together and the ankles far apart.
Short finger
MedGen UID:
334977
Concept ID:
C1844548
Anatomical Abnormality
Abnormally short finger associated with developmental hypoplasia.
Small for gestational age
MedGen UID:
65920
Concept ID:
C0235991
Finding
Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
Disproportionate short-limb short stature
MedGen UID:
342370
Concept ID:
C1849937
Finding
A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.
Neonatal short-limb short stature
MedGen UID:
337984
Concept ID:
C1850171
Finding
A type of short-limbed dwarfism that is manifest beginning in the neonatal period.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Hypertrophic auricular cartilage
MedGen UID:
341738
Concept ID:
C1857263
Finding
Cystic lesions of the pinnae
MedGen UID:
869294
Concept ID:
C4023720
Disease or Syndrome
Spinal cord compression
MedGen UID:
11549
Concept ID:
C0037926
Disease or Syndrome
External mechanical compression of the spinal cord.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Hip contracture
MedGen UID:
140815
Concept ID:
C0409354
Acquired Abnormality
Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.
Kyphoscoliosis
MedGen UID:
154361
Concept ID:
C0575158
Anatomical Abnormality
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Cervical kyphosis
MedGen UID:
107898
Concept ID:
C0575170
Finding
Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance.
Patellar dislocation
MedGen UID:
253896
Concept ID:
C1135812
Injury or Poisoning
The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.
Lumbar hyperlordosis
MedGen UID:
263149
Concept ID:
C1184923
Finding
An abnormal accentuation of the inward curvature of the spine in the lumbar region.
Hypoplastic cervical vertebrae
MedGen UID:
372079
Concept ID:
C1835570
Finding
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 bone
MedGen UID:
344385
Concept ID:
C1854912
Finding
One or more abnormally short long bone.
Costal cartilage calcification
MedGen UID:
344533
Concept ID:
C1855608
Finding
Calcification of the costal cartilages, which are bars of hyaline cartilage found at the anterior ends of the ribs which serve to prolong the ribs forward and contribute to the elasticity of the walls of the thorax.
Flattened epiphysis
MedGen UID:
387844
Concept ID:
C1857527
Finding
Abnormal flatness (decreased height) of epiphyses.
Laryngotracheal stenosis
MedGen UID:
812610
Concept ID:
C3806280
Finding
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.
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Short chin
MedGen UID:
784514
Concept ID:
C3697248
Finding
Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.
Nevus flammeus
MedGen UID:
65911
Concept ID:
C0235752
Congenital Abnormality
A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin.

Term Hierarchy

Follow this link to review classifications for Diastrophic dysplasia in Orphanet.

Professional guidelines

PubMed

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
Superti-Furga A, Rossi A, Steinmann B, Gitzelmann R
Am J Med Genet 1996 May 3;63(1):144-7. doi: 10.1002/(SICI)1096-8628(19960503)63:1<144::AID-AJMG25>3.0.CO;2-N. PMID: 8723100
Hästbacka J, Salonen R, Laurila P, de la Chapelle A, Kaitila I
J Med Genet 1993 Apr;30(4):265-8. doi: 10.1136/jmg.30.4.265. PMID: 8487268Free PMC Article

Recent clinical studies

Etiology

McKay SD, Al-Omari A, Tomlinson LA, Dormans JP
Spine (Phila Pa 1976) 2012 Mar 1;37(5):E269-77. doi: 10.1097/BRS.0b013e31823b3ded. PMID: 22045003
Barbosa M, Sousa AB, Medeira A, Lourenço T, Saraiva J, Pinto-Basto J, Soares G, Fortuna AM, Superti-Furga A, Mittaz L, Reis-Lima M, Bonafé L
Clin Genet 2011 Dec;80(6):550-7. Epub 2010 Dec 13 doi: 10.1111/j.1399-0004.2010.01595.x. PMID: 21155763
Baitner AC, Maurer SG, Gruen MB, Di Cesare PE
J Pediatr Orthop 2000 Sep-Oct;20(5):594-605. doi: 10.1097/00004694-200009000-00010. PMID: 11008738
Sillence D, Worthington S, Dixon J, Osborn R, Kozlowski K
Pediatr Radiol 1997 May;27(5):388-96. doi: 10.1007/s002470050154. PMID: 9133349
Tolo VT
Instr Course Lect 1990;39:399-405. PMID: 2186130

Diagnosis

Campbell JW
Neurosurg Clin N Am 2022 Jan;33(1S):e1-e10. Epub 2022 Aug 6 doi: 10.1016/j.nec.2022.02.001. PMID: 36115686
Honório JC, Bruns RF, Gründtner LF, Raskin S, Ferrari LP, Araujo Júnior E, Nardozza LM
Sao Paulo Med J 2013;131(2):127-32. doi: 10.1590/s1516-31802013000100024. PMID: 23657516Free PMC Article
Newbury-Ecob R
J Med Genet 1998 Jan;35(1):49-53. doi: 10.1136/jmg.35.1.49. PMID: 9475095Free PMC Article
Duraiswamy A, Iyer S, Kher AS, Bharucha BA
Indian Pediatr 1994 Nov;31(11):1403-5. PMID: 7896341
Tolo VT
Instr Course Lect 1990;39:399-405. PMID: 2186130

Therapy

Sidhu VS, Cheng TL, Lillia J, Bridge C, Little DG, Gray RJ
Spine Deform 2021 May;9(3):841-849. Epub 2021 Jan 19 doi: 10.1007/s43390-020-00269-0. PMID: 33464553
Crowley RL, Haas RE
AANA J 2010 Oct;78(5):366-8. PMID: 21067083
Remes V, Poussa M, Lönnqvist T, Puusa A, Tervahartiala P, Helenius I, Peltonen J
J Pediatr Orthop 2004 Sep-Oct;24(5):546-51. doi: 10.1097/00004694-200409000-00016. PMID: 15308906
Helenius I, Remes V, Tallroth K, Peltonen J, Poussa M, Paavilainen T
J Bone Joint Surg Am 2003 Mar;85(3):441-7. doi: 10.2106/00004623-200303000-00007. PMID: 12637429
Shapiro F
Calcif Tissue Int 1992 Oct;51(4):324-31. doi: 10.1007/BF00334495. 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. doi: 10.1590/s1516-31802013000100024. PMID: 23657516Free PMC Article
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
Lachman RS, Krakow D, Cohn DH, Rimoin DL
Pediatr Radiol 2005 Feb;35(2):116-23. Epub 2004 Oct 21 doi: 10.1007/s00247-004-1323-4. PMID: 15503005
Mäkitie O, Kaitila I
J Pediatr 1997 Apr;130(4):641-6. doi: 10.1016/s0022-3476(97)70250-6. PMID: 9108864
Stanescu V, Stanescu R, Maroteaux P
J Bone Joint Surg Am 1984 Jul;66(6):817-36. doi: 10.2106/00004623-198466060-00002. PMID: 6376516

Clinical prediction guides

Bayhan IA, Er MS, Nishnianidze T, Ditro C, Rogers KJ, Miller F, Mackenzie WG
J Pediatr Orthop 2016 Oct-Nov;36(7):709-14. doi: 10.1097/BPO.0000000000000530. PMID: 26296216
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
Sillence D, Worthington S, Dixon J, Osborn R, Kozlowski K
Pediatr Radiol 1997 May;27(5):388-96. doi: 10.1007/s002470050154. PMID: 9133349
Mäkitie O, Kaitila I
J Pediatr 1997 Apr;130(4):641-6. doi: 10.1016/s0022-3476(97)70250-6. PMID: 9108864
Superti-Furga A, Rossi A, Steinmann B, Gitzelmann R
Am J Med Genet 1996 May 3;63(1):144-7. doi: 10.1002/(SICI)1096-8628(19960503)63:1<144::AID-AJMG25>3.0.CO;2-N. PMID: 8723100

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