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Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome(MDCDC)

MedGen UID:
934703
Concept ID:
C4310736
Disease or Syndrome
Synonym: Muscular dystrophy, congenital, davignon-chauveau type
SNOMED CT: Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome (1172688004); Congenital muscular dystrophy Davignon Chauveau type (1172688004)
 
Gene (location): TRIP4 (15q22.31)
 
Monarch Initiative: MONDO:0014896
OMIM®: 617066
Orphanet: ORPHA486815

Definition

A rare congenital muscular dystrophy characterised by neonatal hypotonia, life-threatening respiratory failure and feeding difficulties, furthermore by delayed motor development, severe muscle weakness predominantly affecting axial muscles (leading to poor head control, rigid cervical spine, and severe scoliosis), generalised joint laxity with no or mild contractures, as well as dry skin with follicular hyperkeratosis. Serum creatine kinase is normal or slightly elevated. Muscle biopsy shows fibre size variability, rounded fibres with mild increase of endomysial connective tissue and adipose replacement, abundant minicore lesions, increase of centrally located nuclei, angular fibres and cap lesions. [from SNOMEDCT_US]

Clinical features

From HPO
Feeding difficulties
MedGen UID:
65429
Concept ID:
C0232466
Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Muscular dystrophy
MedGen UID:
44527
Concept ID:
C0026850
Disease or Syndrome
The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Neck muscle weakness
MedGen UID:
66808
Concept ID:
C0240479
Finding
Decreased strength of the neck musculature.
Severe muscular hypotonia
MedGen UID:
326544
Concept ID:
C1839630
Finding
A severe degree of muscular hypotonia characterized by markedly reduced muscle tone.
Centrally nucleated skeletal muscle fibers
MedGen UID:
330782
Concept ID:
C1842170
Finding
An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells).
Spinal rigidity
MedGen UID:
346721
Concept ID:
C1858025
Finding
Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion.
Pectus excavatum
MedGen UID:
781174
Concept ID:
C2051831
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
Respiratory insufficiency due to muscle weakness
MedGen UID:
812797
Concept ID:
C3806467
Finding
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Dry skin
MedGen UID:
56250
Concept ID:
C0151908
Sign or Symptom
Skin characterized by the lack of natural or normal moisture.
Follicular hyperkeratosis
MedGen UID:
83101
Concept ID:
C0334013
Disease or Syndrome
A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome

Professional guidelines

PubMed

Voermans NC, Bonnemann CG, Hamel BC, Jungbluth H, van Engelen BG
J Neurol 2009 Jan;256(1):13-27. Epub 2009 Feb 9 doi: 10.1007/s00415-009-0105-1. PMID: 19221853

Recent clinical studies

Etiology

Palmer S, Denner E, Riglar M, Scannell H, Webb S, Young G
Clin Rheumatol 2020 Mar;39(3):715-725. Epub 2020 Jan 18 doi: 10.1007/s10067-020-04939-2. PMID: 31955324
Voermans NC, Bonnemann CG, Hamel BC, Jungbluth H, van Engelen BG
J Neurol 2009 Jan;256(1):13-27. Epub 2009 Feb 9 doi: 10.1007/s00415-009-0105-1. PMID: 19221853

Diagnosis

Palmer S, Denner E, Riglar M, Scannell H, Webb S, Young G
Clin Rheumatol 2020 Mar;39(3):715-725. Epub 2020 Jan 18 doi: 10.1007/s10067-020-04939-2. PMID: 31955324
Uzak AS, Fryns JP, Dundar M
Genet Couns 2014;25(2):159-69. PMID: 25059014
Voermans NC, Bonnemann CG, Hamel BC, Jungbluth H, van Engelen BG
J Neurol 2009 Jan;256(1):13-27. Epub 2009 Feb 9 doi: 10.1007/s00415-009-0105-1. PMID: 19221853

Clinical prediction guides

Uzak AS, Fryns JP, Dundar M
Genet Couns 2014;25(2):159-69. PMID: 25059014
Voermans NC, Bonnemann CG, Hamel BC, Jungbluth H, van Engelen BG
J Neurol 2009 Jan;256(1):13-27. Epub 2009 Feb 9 doi: 10.1007/s00415-009-0105-1. PMID: 19221853

Recent systematic reviews

Palmer S, Denner E, Riglar M, Scannell H, Webb S, Young G
Clin Rheumatol 2020 Mar;39(3):715-725. Epub 2020 Jan 18 doi: 10.1007/s10067-020-04939-2. PMID: 31955324

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