U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Arthrogryposis-severe scoliosis syndrome(DA4; DAIID)

MedGen UID:
373169
Concept ID:
C1836756
Disease or Syndrome
Synonyms: ARTHROGRYPOSIS WITH SEVERE SCOLIOSIS; ARTHROGRYPOSIS, DISTAL, TYPE IID; Distal arthrogryposis type 4
SNOMED CT: Distal arthrogryposis type 4 (715575001); Arthrogryposis with severe scoliosis (715575001)
 
Monarch Initiative: MONDO:0012195
OMIM®: 609128
Orphanet: ORPHA65720

Definition

Distal arthrogryposis type 4 (DA4) is distinguished by the presence of scoliosis (summary by Bamshad et al., 2009). For a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120). [from OMIM]

Clinical features

From HPO
Hypoplastic labia majora
MedGen UID:
107566
Concept ID:
C0566899
Finding
Undergrowth of the outer labia.
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).
Single transverse palmar crease
MedGen UID:
96108
Concept ID:
C0424731
Finding
The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.
Tibial deviation of toes
MedGen UID:
812863
Concept ID:
C3806533
Finding
Fibular deviation of toes
MedGen UID:
866623
Concept ID:
C4020970
Anatomical Abnormality
Deviation of the 2nd toe
MedGen UID:
866941
Concept ID:
C4021297
Anatomical Abnormality
2-5 finger cutaneous syndactyly
MedGen UID:
870711
Concept ID:
C4025165
Anatomical Abnormality
A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints.
Equinovarus deformity
MedGen UID:
1636532
Concept ID:
C4551566
Anatomical Abnormality
Hypoplastic helices
MedGen UID:
334588
Concept ID:
C1842681
Finding
Underdevelopment of the helix, i.e., of the outer rim of the pinna.
Intellectual disability, severe
MedGen UID:
48638
Concept ID:
C0036857
Mental or Behavioral Dysfunction
Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
Torticollis
MedGen UID:
11859
Concept ID:
C0040485
Sign or Symptom
Torticollis is a twisted neck as a result of shortening of sternocleidomastoid muscle. This short and fibrotic muscle pulls the head laterally and rotates the chin and face to the opposite end. Facial asymmetry may be a manifestation (summary by Engin et al., 1997).
Kyphosis
MedGen UID:
44042
Concept ID:
C0022821
Anatomical Abnormality
Exaggerated anterior convexity of the thoracic vertebral column.
Osteopenia
MedGen UID:
18222
Concept ID:
C0029453
Disease or Syndrome
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Distal arthrogryposis
MedGen UID:
120512
Concept ID:
C0265213
Disease or Syndrome
An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function.
Camptodactyly
MedGen UID:
195780
Concept ID:
C0685409
Congenital Abnormality
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.
Camptodactyly of 2nd-5th fingers
MedGen UID:
347863
Concept ID:
C1859368
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension.
Cranial asymmetry
MedGen UID:
348059
Concept ID:
C1860245
Finding
Asymmetry of the bones of the skull.
Lumbar scoliosis
MedGen UID:
412568
Concept ID:
C2748518
Finding
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.
Low anterior hairline
MedGen UID:
331280
Concept ID:
C1842366
Finding
Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella.
Low posterior hairline
MedGen UID:
383755
Concept ID:
C1855728
Finding
Hair on the neck extends more inferiorly than usual.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Horizontal nystagmus
MedGen UID:
124399
Concept ID:
C0271385
Disease or Syndrome
Nystagmus consisting of horizontal to-and-fro eye movements.

Professional guidelines

PubMed

Mary P, Servais L, Vialle R
Orthop Traumatol Surg Res 2018 Feb;104(1S):S89-S95. Epub 2017 Nov 28 doi: 10.1016/j.otsr.2017.04.019. PMID: 29196274
Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Grønskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tümer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I
Nat Rev Endocrinol 2017 Feb;13(2):105-124. Epub 2016 Sep 2 doi: 10.1038/nrendo.2016.138. PMID: 27585961
Lurie J, Tomkins-Lane C
BMJ 2016 Jan 4;352:h6234. doi: 10.1136/bmj.h6234. PMID: 26727925Free PMC Article

Recent clinical studies

Etiology

Bouman A, Bouwmeester RN, van Vlimmeren LA, Burger P, Mandel JL, de Vries BBA, de Kleuver M, Klein WM, Geelen JM, Koolen DA
Am J Med Genet A 2023 Sep;191(9):2346-2355. Epub 2023 Jun 23 doi: 10.1002/ajmg.a.63334. PMID: 37350176
Li G, Strong A, Wang H, Kim JS, Watson D, Zhao S, Vaccaro C, Hartung E, Hakonarson H, Zhang TJ, Giampietro PF, Wu N
Am J Med Genet A 2022 Dec;188(12):3469-3481. Epub 2022 Sep 26 doi: 10.1002/ajmg.a.62972. PMID: 36161696Free PMC Article
Bachmann KR
Clin Sports Med 2021 Jul;40(3):541-554. doi: 10.1016/j.csm.2021.03.007. PMID: 34051945
van Bosse HJP, Butler MG
Genes (Basel) 2020 Feb 28;11(3) doi: 10.3390/genes11030260. PMID: 32121146Free PMC Article
Cunningham ME, Frelinghuysen PH, Roh JS, Boachie-Adjei O, Green DW
Curr Opin Pediatr 2005 Feb;17(1):48-53. doi: 10.1097/01.mop.0000149603.33508.8d. PMID: 15659963

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
Litrenta J, Bi AS, Dryer JW
J Am Acad Orthop Surg 2021 Nov 15;29(22):951-960. doi: 10.5435/JAAOS-D-21-00190. PMID: 34288888
Mary P, Servais L, Vialle R
Orthop Traumatol Surg Res 2018 Feb;104(1S):S89-S95. Epub 2017 Nov 28 doi: 10.1016/j.otsr.2017.04.019. PMID: 29196274
Shirley ED, Sponseller PD
J Am Acad Orthop Surg 2009 Sep;17(9):572-81. doi: 10.5435/00124635-200909000-00004. PMID: 19726741
Lew SM, Kothbauer KF
Pediatr Neurosurg 2007;43(3):236-48. doi: 10.1159/000098836. PMID: 17409793

Therapy

Achar S, Yamanaka J
Am Fam Physician 2020 Jul 1;102(1):19-28. PMID: 32603067
Venot Q, Blanc T, Rabia SH, Berteloot L, Ladraa S, Duong JP, Blanc E, Johnson SC, Hoguin C, Boccara O, Sarnacki S, Boddaert N, Pannier S, Martinez F, Magassa S, Yamaguchi J, Knebelmann B, Merville P, Grenier N, Joly D, Cormier-Daire V, Michot C, Bole-Feysot C, Picard A, Soupre V, Lyonnet S, Sadoine J, Slimani L, Chaussain C, Laroche-Raynaud C, Guibaud L, Broissand C, Amiel J, Legendre C, Terzi F, Canaud G
Nature 2018 Jun;558(7711):540-546. Epub 2018 Jun 13 doi: 10.1038/s41586-018-0217-9. PMID: 29899452Free PMC Article
Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Grønskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tümer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I
Nat Rev Endocrinol 2017 Feb;13(2):105-124. Epub 2016 Sep 2 doi: 10.1038/nrendo.2016.138. PMID: 27585961
Lurie J, Tomkins-Lane C
BMJ 2016 Jan 4;352:h6234. doi: 10.1136/bmj.h6234. PMID: 26727925Free PMC Article
Mantle D, Wilkins RM, Preedy V
Med Hypotheses 2005;64(2):279-83. doi: 10.1016/j.mehy.2004.07.023. PMID: 15607555

Prognosis

Vilvarajan S, McDonald M, Douglas L, Newham J, Kirkland R, Tzannes G, Tay D, Christodoulou J, Thompson S, Ellaway C
Genes (Basel) 2023 Aug 11;14(8) doi: 10.3390/genes14081607. PMID: 37628658Free PMC Article
Karol LA
J Pediatr Orthop 2019 Jul;39(Issue 6, Supplement 1 Suppl 1):S38-S43. doi: 10.1097/BPO.0000000000001351. PMID: 31169646
Mary P, Servais L, Vialle R
Orthop Traumatol Surg Res 2018 Feb;104(1S):S89-S95. Epub 2017 Nov 28 doi: 10.1016/j.otsr.2017.04.019. PMID: 29196274
Lurie J, Tomkins-Lane C
BMJ 2016 Jan 4;352:h6234. doi: 10.1136/bmj.h6234. PMID: 26727925Free PMC Article
Baujat G, Cormier-Daire V
Orphanet J Rare Dis 2007 Sep 7;2:36. doi: 10.1186/1750-1172-2-36. PMID: 17825104Free PMC Article

Clinical prediction guides

Vilvarajan S, McDonald M, Douglas L, Newham J, Kirkland R, Tzannes G, Tay D, Christodoulou J, Thompson S, Ellaway C
Genes (Basel) 2023 Aug 11;14(8) doi: 10.3390/genes14081607. PMID: 37628658Free PMC Article
Pollock L, Ridout A, Teh J, Nnadi C, Stavroulias D, Pitcher A, Blair E, Wordsworth P, Vincent TL
Curr Rheumatol Rep 2021 Nov 26;23(11):81. doi: 10.1007/s11926-021-01045-3. PMID: 34825999Free PMC Article
Litrenta J, Bi AS, Dryer JW
J Am Acad Orthop Surg 2021 Nov 15;29(22):951-960. doi: 10.5435/JAAOS-D-21-00190. PMID: 34288888
Minegishi Y
Curr Opin Immunol 2009 Oct;21(5):487-92. Epub 2009 Aug 28 doi: 10.1016/j.coi.2009.07.013. PMID: 19717292
Baujat G, Cormier-Daire V
Orphanet J Rare Dis 2007 Sep 7;2:36. doi: 10.1186/1750-1172-2-36. PMID: 17825104Free PMC Article

Recent systematic reviews

Shere C, Clark EM
Arch Orthop Trauma Surg 2023 Jun;143(6):3055-3076. Epub 2022 Jul 16 doi: 10.1007/s00402-022-04508-z. PMID: 35841409Free PMC Article
Parnell Prevost C, Gleberzon B, Carleo B, Anderson K, Cark M, Pohlman KA
BMC Complement Altern Med 2019 Mar 13;19(1):60. doi: 10.1186/s12906-019-2447-2. PMID: 30866915Free PMC Article
Kazachkov M, Palma JA, Norcliffe-Kaufmann L, Bar-Aluma BE, Spalink CL, Barnes EP, Amoroso NE, Balou SM, Bess S, Chopra A, Condos R, Efrati O, Fitzgerald K, Fridman D, Goldenberg RM, Goldhaber A, Kaufman DA, Kothare SV, Levine J, Levy J, Lubinsky AS, Maayan C, Moy LC, Rivera PJ, Rodriguez AJ, Sokol G, Sloane MF, Tan T, Kaufmann H
Respir Med 2018 Aug;141:37-46. Epub 2018 Jun 21 doi: 10.1016/j.rmed.2018.06.017. PMID: 30053970Free PMC Article
Renkema RW, Caron CJJM, Mathijssen IMJ, Wolvius EB, Dunaway DJ, Forrest CR, Padwa BL, Koudstaal MJ
Int J Oral Maxillofac Surg 2017 Oct;46(10):1319-1329. Epub 2017 Jun 29 doi: 10.1016/j.ijom.2017.04.025. PMID: 28669484
Lurie J, Tomkins-Lane C
BMJ 2016 Jan 4;352:h6234. doi: 10.1136/bmj.h6234. PMID: 26727925Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...