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Dyggve-Melchior-Clausen syndrome, X-linked

MedGen UID:
337052
Concept ID:
C1844654
Disease or Syndrome
Synonyms: Dyggve-Melchior-Clausen syndrome X linked; Dyggve-Melchior-Clausen Syndrome, X-Linked; X-linked Dyggve-Melchior-Clausen syndrome
 
Monarch Initiative: MONDO:0010583
OMIM®: 304950

Definition

X-linked form of Dyggve-Melchior-Clausen disease. [from MONDO]

Clinical features

From HPO
Hallux valgus
MedGen UID:
5416
Concept ID:
C0018536
Anatomical Abnormality
Lateral deviation of the great toe (i.e., in the direction of the little toe).
Coxa vara
MedGen UID:
116081
Concept ID:
C0239138
Anatomical Abnormality
Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.
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.
Distal ulnar hypoplasia
MedGen UID:
371495
Concept ID:
C1833145
Finding
Underdevelopment of the distal portion of the ulna.
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.
Carpal bone hypoplasia
MedGen UID:
355049
Concept ID:
C1863749
Finding
Underdevelopment of one or more carpal bones.
Abnormality of the nervous system
MedGen UID:
105425
Concept ID:
C0497552
Congenital Abnormality
An abnormality of the nervous system.
Legg-Calve-Perthes disease
MedGen UID:
6035
Concept ID:
C0023234
Disease or Syndrome
Legg-Calve-Perthes disease (LCPD) is characterized by loss of circulation to the femoral head, resulting in avascular necrosis in a growing child. Clinical pictures of the disease vary, depending on the phase of disease progression through ischemia, revascularization, fracture and collapse, and repair and remodeling of the bone. The disease occurs more frequently in boys, and most patients tend to be shorter than their peers. Both familial and isolated cases of LCPD have been reported (summary by Chen et al., 2004).
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Brachycephaly
MedGen UID:
113165
Concept ID:
C0221356
Congenital Abnormality
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
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.
Spondyloepimetaphyseal dysplasia
MedGen UID:
609408
Concept ID:
C0432211
Disease or Syndrome
An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis.
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.
Short femoral neck
MedGen UID:
373033
Concept ID:
C1836184
Finding
An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
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
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.
Irregular iliac crest
MedGen UID:
344438
Concept ID:
C1855180
Finding
Irregularity of the iliac crest, which is the superior border of the wing of the ilium.
Thickened calvaria
MedGen UID:
346823
Concept ID:
C1858452
Finding
The presence of an abnormally thick calvaria.
Hypoplastic ischia
MedGen UID:
347146
Concept ID:
C1859447
Finding
Underdevelopment of the ischium, which forms the lower and back part of the hip bone.
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 sacrum
MedGen UID:
370356
Concept ID:
C1970816
Finding
Hypoplastic pelvis
MedGen UID:
760700
Concept ID:
C3536734
Anatomical Abnormality
Underdevelopment of the bony pelvis.
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.

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

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