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Dyggve-Melchior-Clausen syndrome(DMC)

MedGen UID:
120527
Concept ID:
C0265286
Congenital Abnormality; Disease or Syndrome
Synonyms: DMC; DMC syndrome; Dyggve-Melchior-Clausen disease
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: HPO
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).
SNOMED CT: Dyggve-Melchior-Clausen dysplasia (82699004); Dyggve-Melchior-Clausen syndrome (82699004)
 
Gene (location): DYM (18q21.1)
OMIM®: 223800
Orphanet: ORPHA239

Clinical features

Spade-like hand
MedGen UID:
75535
Concept ID:
C0264142
Disease or Syndrome
For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length.
Knee joint valgus deformity
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 metacarpal
MedGen UID:
323064
Concept ID:
C1837084
Finding
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Flat acetabular roof
MedGen UID:
373340
Concept ID:
C1837485
Finding
Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does.
Short metatarsal
MedGen UID:
341358
Concept ID:
C1849020
Finding
Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.
Multicentric ossification of proximal humeral epiphyses
MedGen UID:
346539
Concept ID:
C1857192
Finding
Multicentric ossification of proximal femoral epiphyses
MedGen UID:
341717
Concept ID:
C1857193
Finding
Cone-shaped epiphyses of the phalanges of the hand
MedGen UID:
347156
Concept ID:
C1859480
Finding
A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.
Carpal bone hypoplasia
MedGen UID:
355049
Concept ID:
C1863749
Finding
Underdevelopment of one or more carpal bones.
Broad foot
MedGen UID:
356187
Concept ID:
C1866241
Finding
A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length.
Rhizomelia
MedGen UID:
357122
Concept ID:
C1866730
Congenital Abnormality
Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).
Disproportionate short-trunk short stature
MedGen UID:
337580
Concept ID:
C1846435
Finding
A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.
Postnatal growth retardation
MedGen UID:
395343
Concept ID:
C1859778
Finding
Slow or limited growth after birth.
Rhizomelia
MedGen UID:
357122
Concept ID:
C1866730
Congenital Abnormality
Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).
Microcephalus
MedGen UID:
44422
Concept ID:
C0025958
Congenital Abnormality
A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)
Waddling gait
MedGen UID:
66667
Concept ID:
C0231712
Finding
Severe global developmental delay
MedGen UID:
332436
Concept ID:
C1837397
Finding
A severe delay in the achievement of motor or mental milestones in the domains of development of a child.
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.
Microcephalus
MedGen UID:
44422
Concept ID:
C0025958
Congenital Abnormality
A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)
Wedging of vertebra
MedGen UID:
120495
Concept ID:
C0264112
Disease or Syndrome
Anterior tongue-like protrusions of the vertebral bodies.
Barrel chest
MedGen UID:
120497
Concept ID:
C0264172
Finding
A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis.
Class III malocclusion
MedGen UID:
98316
Concept ID:
C0399526
Finding
Abnormal prominence of the chin related to increased length of the mandible.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.
Narrow greater sacrosciatic notches
MedGen UID:
154353
Concept ID:
C0566888
Finding
A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.
Knee joint valgus deformity
MedGen UID:
154364
Concept ID:
C0576093
Anatomical Abnormality
The legs angle inward, such that the knees are close together and the ankles far apart.
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.
Scoliosis
MedGen UID:
195976
Concept ID:
C0700208
Finding
The presence of an abnormal lateral curvature of the spine.
Thoracic kyphosis
MedGen UID:
263148
Concept ID:
C1184919
Finding
Over curvature of the thoracic region, leading to a round back or if sever to a hump.
Lumbar hyperlordosis
MedGen UID:
263149
Concept ID:
C1184923
Finding
An abnormal accentuation of the inward curvature of the spine in the lumbar region.
Shield chest
MedGen UID:
322348
Concept ID:
C1834124
Finding
A broad chest.
Short metacarpal
MedGen UID:
323064
Concept ID:
C1837084
Finding
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Flat acetabular roof
MedGen UID:
373340
Concept ID:
C1837485
Finding
Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does.
Platyspondyly
MedGen UID:
335010
Concept ID:
C1844704
Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Prominent sternum
MedGen UID:
337578
Concept ID:
C1846433
Finding
Hypoplastic scapulae
MedGen UID:
337579
Concept ID:
C1846434
Finding
Underdeveloped scapula.
Disproportionate short-trunk short stature
MedGen UID:
337580
Concept ID:
C1846435
Finding
A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.
Deformed sella turcica
MedGen UID:
335425
Concept ID:
C1846437
Finding
Hypoplastic facial bones
MedGen UID:
335426
Concept ID:
C1846438
Finding
Odontoid hypoplasia
MedGen UID:
339524
Concept ID:
C1846439
Finding
The odontoid process, or dens, is a bony projection from the axis (C2) upward into the ring of the atlas (C1) at the top of the spine. During embryogenesis, the body of the odontoid derives from the centrum of the atlas and separates from the atlas, fusing with the superior portion of the axis. If the odontoid is hypoplastic or absent, the attachments for the apical and alar ligaments are missing, allowing for excessive rotation of the atlas, craniocervical instability, and possibly cord compression (summary by Stevens et al., 2009).
Short metatarsal
MedGen UID:
341358
Concept ID:
C1849020
Finding
Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.
Flat glenoid fossa
MedGen UID:
340804
Concept ID:
C1855177
Finding
Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.
Enlargement of the costochondral junction
MedGen UID:
346535
Concept ID:
C1857180
Finding
Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.
Iliac crest serration
MedGen UID:
387761
Concept ID:
C1857186
Finding
Irregularities of the iliac crest that produce the appearance of a lace border around it.
Wide pubic symphysis
MedGen UID:
387763
Concept ID:
C1857190
Finding
Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones.
Multicentric ossification of proximal humeral epiphyses
MedGen UID:
346539
Concept ID:
C1857192
Finding
Multicentric ossification of proximal femoral epiphyses
MedGen UID:
341717
Concept ID:
C1857193
Finding
Thickened calvaria
MedGen UID:
346823
Concept ID:
C1858452
Finding
The presence of an abnormally thick calvaria.
Cone-shaped epiphyses of the phalanges of the hand
MedGen UID:
347156
Concept ID:
C1859480
Finding
A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.
Carpal bone hypoplasia
MedGen UID:
355049
Concept ID:
C1863749
Finding
Underdevelopment of one or more carpal bones.
Hypoplastic iliac wing
MedGen UID:
351279
Concept ID:
C1865027
Anatomical Abnormality
Underdevelopment of the ilium ala.
Rhizomelia
MedGen UID:
357122
Concept ID:
C1866730
Congenital Abnormality
Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).
Microcephalus
MedGen UID:
44422
Concept ID:
C0025958
Congenital Abnormality
A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)
Class III malocclusion
MedGen UID:
98316
Concept ID:
C0399526
Finding
Abnormal prominence of the chin related to increased length of the mandible.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.
Coarse facial features
MedGen UID:
335284
Concept ID:
C1845847
Finding
Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
Deformed sella turcica
MedGen UID:
335425
Concept ID:
C1846437
Finding
Hypoplastic facial bones
MedGen UID:
335426
Concept ID:
C1846438
Finding
Thickened calvaria
MedGen UID:
346823
Concept ID:
C1858452
Finding
The presence of an abnormally thick calvaria.
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDyggve-Melchior-Clausen syndrome
Follow this link to review classifications for Dyggve-Melchior-Clausen syndrome in Orphanet.

Recent clinical studies

Etiology

Nectoux E, Hocquet B, Fron D, Mezel A, Paris A, Herbaux B
Orthop Traumatol Surg Res 2013 Oct;99(6):745-8. Epub 2013 Sep 12 doi: 10.1016/j.otsr.2013.04.006. [Epub ahead of print] PMID: 24035654
Geneviève D, Héron D, El Ghouzzi V, Prost-Squarcioni C, Le Merrer M, Jacquette A, Sanlaville D, Pinton F, Villeneuve N, Kalifa G, Munnich A, Cormier-Daire V
Eur J Hum Genet 2005 May;13(5):541-6. doi: 10.1038/sj.ejhg.5201339. PMID: 15726110
Sztrolovics R, Rimoin DL, Rodriguez E, Roughley RJ
Matrix Biol 1994 Aug;14(4):307-12. PMID: 7827753

Diagnosis

Seven M, Koparir E, Gezdirici A, Aydin H, Skladny H, Fenercioğlu E, Güven G, Karataş ÖF, Koparir A, Özen M, Ulucan H
Clin Dysmorphol 2014 Jan;23(1):1-7. doi: 10.1097/MCD.0000000000000020. PMID: 24300288
Nectoux E, Hocquet B, Fron D, Mezel A, Paris A, Herbaux B
Orthop Traumatol Surg Res 2013 Oct;99(6):745-8. Epub 2013 Sep 12 doi: 10.1016/j.otsr.2013.04.006. [Epub ahead of print] PMID: 24035654
Khalifa O, Imtiaz F, Al-Sakati N, Al-Manea K, Verloes A, Al-Owain M
Eur J Pediatr 2011 Jan;170(1):121-6. Epub 2010 Sep 24 doi: 10.1007/s00431-010-1298-0. [Epub ahead of print] PMID: 20865280
Gupta V, Kohli A, Dewan V
Indian Pediatr 2010 Nov;47(11):973-5. PMID: 21149903
Carbonell PG, Fernández PD, Vicente-Franqueira JR
J Magn Reson Imaging 2005 Oct;22(4):572-6. doi: 10.1002/jmri.20414. PMID: 16161079

Therapy

Horton WA, Scott CI
J Bone Joint Surg Am 1982 Mar;64(3):408-15. PMID: 6277958

Prognosis

Nectoux E, Hocquet B, Fron D, Mezel A, Paris A, Herbaux B
Orthop Traumatol Surg Res 2013 Oct;99(6):745-8. Epub 2013 Sep 12 doi: 10.1016/j.otsr.2013.04.006. [Epub ahead of print] PMID: 24035654
Neumann LM, El Ghouzzi V, Paupe V, Weber HP, Fastnacht E, Leenen A, Lyding S, Klusmann A, Mayatepek E, Pelz J, Cormier-Daire V
Am J Med Genet A 2006 Mar 1;140(5):421-6. doi: 10.1002/ajmg.a.31090. PMID: 16470731
Kinning E, Tufarelli C, Winship WS, Aldred MA, Trembath RC
J Med Genet 2005 Dec;42(12):e70. doi: 10.1136/jmg.2005.033829. PMID: 16326827Free PMC Article
El Ghouzzi V, Dagoneau N, Kinning E, Thauvin-Robinet C, Chemaitilly W, Prost-Squarcioni C, Al-Gazali LI, Verloes A, Le Merrer M, Munnich A, Trembath RC, Cormier-Daire V
Hum Mol Genet 2003 Feb 1;12(3):357-64. PMID: 12554689
Burns C, Powell BR, Hsia YE, Reinker K
J Pediatr Orthop 2003 Jan-Feb;23(1):88-93. PMID: 12499951

Clinical prediction guides

Dimitrov A, Paupe V, Gueudry C, Sibarita JB, Raposo G, Vielemeyer O, Gilbert T, Csaba Z, Attie-Bitach T, Cormier-Daire V, Gressens P, Rustin P, Perez F, El Ghouzzi V
Hum Mol Genet 2009 Feb 1;18(3):440-53. Epub 2008 Nov 7 doi: 10.1093/hmg/ddn371. [Epub ahead of print] PMID: 18996921
Neumann LM, El Ghouzzi V, Paupe V, Weber HP, Fastnacht E, Leenen A, Lyding S, Klusmann A, Mayatepek E, Pelz J, Cormier-Daire V
Am J Med Genet A 2006 Mar 1;140(5):421-6. doi: 10.1002/ajmg.a.31090. PMID: 16470731
Kinning E, Tufarelli C, Winship WS, Aldred MA, Trembath RC
J Med Genet 2005 Dec;42(12):e70. doi: 10.1136/jmg.2005.033829. PMID: 16326827Free PMC Article
El Ghouzzi V, Dagoneau N, Kinning E, Thauvin-Robinet C, Chemaitilly W, Prost-Squarcioni C, Al-Gazali LI, Verloes A, Le Merrer M, Munnich A, Trembath RC, Cormier-Daire V
Hum Mol Genet 2003 Feb 1;12(3):357-64. PMID: 12554689
Horton WA, Scott CI
J Bone Joint Surg Am 1982 Mar;64(3):408-15. PMID: 6277958

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