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Dyggve-Melchior-Clausen syndrome(DMC)

MedGen UID:
120527
Concept ID:
C0265286
Disease or Syndrome
Synonyms: DMC; DMC syndrome; Dyggve-Melchior-Clausen disease
SNOMED CT: Dyggve-Melchior-Clausen dysplasia (82699004); Dyggve-Melchior-Clausen syndrome (82699004)
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): DYM (18q21.1)
 
Monarch Initiative: MONDO:0009130
OMIM®: 223800
Orphanet: ORPHA239

Definition

Dyggve-Melchior-Clausen disease (DMC) is an autosomal recessive disorder characterized by progressive spondyloepimetaphyseal dysplasia and impaired intellectual development. Short-trunk dwarfism and microcephaly are present, and specific radiologic appearances most likely reflect abnormalities of the growth plates, including platyspondyly with notched end plates, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small iliac wings with lacy iliac crests (summary by El Ghouzzi et al., 2003). [from OMIM]

Clinical features

From HPO
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).
Pes planus
MedGen UID:
42034
Concept ID:
C0016202
Anatomical Abnormality
A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Broad palm
MedGen UID:
75535
Concept ID:
C0264142
Congenital Abnormality
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.
Genu varum
MedGen UID:
154257
Concept ID:
C0544755
Finding
A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.
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.
Tibial bowing
MedGen UID:
332360
Concept ID:
C1837081
Finding
A bending or abnormal curvature of the tibia.
Short metacarpal
MedGen UID:
323064
Concept ID:
C1837084
Anatomical Abnormality
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.
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
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.
Rhizomelic arm shortening
MedGen UID:
409853
Concept ID:
C1969532
Finding
Disproportionate shortening of the proximal segment of the arm (i.e. the humerus).
Prominent calcaneus
MedGen UID:
866740
Concept ID:
C4021088
Anatomical Abnormality
Protruding heel bone, or calcaneus.
Postnatal growth retardation
MedGen UID:
395343
Concept ID:
C1859778
Finding
Slow or limited growth after birth.
Waddling gait
MedGen UID:
66667
Concept ID:
C0231712
Finding
Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.
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.
Kyphosis
MedGen UID:
44042
Concept ID:
C0022821
Anatomical Abnormality
Exaggerated anterior convexity of the thoracic vertebral column.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Pectus carinatum
MedGen UID:
57643
Concept ID:
C0158731
Finding
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
Barrel-shaped 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.
Narrow greater sciatic notch
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.
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.
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.
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).
Metaphyseal widening
MedGen UID:
341364
Concept ID:
C1849039
Finding
Abnormal widening of the metaphyseal regions of long bones.
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.
Flaring of lower rib cage
MedGen UID:
381581
Concept ID:
C1855196
Finding
Beaking of vertebral bodies
MedGen UID:
341588
Concept ID:
C1856599
Finding
Anterior tongue-like protrusions of the vertebral bodies.
Limitation of joint mobility
MedGen UID:
341696
Concept ID:
C1857108
Finding
A reduction in the freedom of movement of one or more joints.
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.
Femoral bowing
MedGen UID:
347888
Concept ID:
C1859461
Finding
Bowing (abnormal curvature) of the femur.
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.
Hypoplastic iliac wing
MedGen UID:
351279
Concept ID:
C1865027
Anatomical Abnormality
Underdevelopment of the ilium ala.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Mandibular prognathia
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.

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

Varshney K, Narayanachar SG, Girisha KM, Bhavani GS, Narayanan D, Phadke S, Nampoothiri S, Udupi GA, Raghupathy P, Nair M, Geetha TS, Bhat M
J Med Genet 2023 Feb;60(2):204-211. Epub 2022 Apr 27 doi: 10.1136/jmedgenet-2021-108098. PMID: 35477554
Toru HS, Nur BG, Sanhal CY, Mihci E, Mendilcioğlu İ, Yilmaz E, Yilmaz GT, Ozbudak IH, Karaali K, Alper OM, Karaveli FŞ
Fetal Pediatr Pathol 2015;34(5):287-306. Epub 2015 Aug 20 doi: 10.3109/15513815.2015.1068414. PMID: 26376227
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. 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. doi: 10.1016/0945-053x(94)90196-1. PMID: 7827753

Diagnosis

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. PMID: 24035654
Gupta V, Kohli A, Dewan V
Indian Pediatr 2010 Nov;47(11):973-5. doi: 10.1007/s13312-010-0151-x. PMID: 21149903
Burns C, Powell BR, Hsia YE, Reinker K
J Pediatr Orthop 2003 Jan-Feb;23(1):88-93. PMID: 12499951
Beighton P
J Med Genet 1990 Aug;27(8):512-5. doi: 10.1136/jmg.27.8.512. PMID: 2213845Free PMC Article
Schorr S, Legum C, Ochshorn M, Hirsch M, Moses S, Lasch EE, El-Masri M
AJR Am J Roentgenol 1977 Jan;128(1):107-13. doi: 10.2214/ajr.128.1.107. PMID: 401564

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. PMID: 24035654
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. PMID: 18996921
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
Burns C, Powell BR, Hsia YE, Reinker K
J Pediatr Orthop 2003 Jan-Feb;23(1):88-93. PMID: 12499951
Kandziora F, Neumann L, Schnake KJ, Khodadadyan-Klostermann C, Rehart S, Haas NP, Mittlmeier T
J Neurosurg 2002 Jan;96(1 Suppl):112-7. doi: 10.3171/spi.2002.96.1.0112. PMID: 11795698

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. 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. doi: 10.1093/hmg/ddg029. PMID: 12554689
Ehtesham N, Cantor RM, King LM, Reinker K, Powell BR, Shanske A, Unger S, Rimoin DL, Cohn DH
Am J Hum Genet 2002 Oct;71(4):947-51. Epub 2002 Aug 2 doi: 10.1086/342669. PMID: 12161821Free PMC Article

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