ORPHA:239
Dyggve-Melchior-Clausen disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare, genetic primary bone dysplasia of the spondylo-epi-metaphyseal dysplasia (SEMD) group characterized by progressive short-trunked dwarfism, protruding sternum, microcephaly, intellectual disability and pathognomonic radiological findings (generalized platyspondyly with double-humped end plates, irregularly ossified femoral heads, a hypoplastic odontoid, and a lace-like appearance of iliac crests)
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dyggve-Melchior-Clausen disease | |
| fr | Syndrome de Dyggve-Melchior-Clausen | |
| de | Dyggve-Melchior-Clausen-Syndrom | |
| es | Síndrome de Dyggve-Melchior-Clausen | |
| it | Malattia di Dyggve-Melchior-Clausen | |
| nl | Ziekte van Dyggve-Melchior-Clausen | |
| pt | Doença de Dyggve-Melchior-Clausen | |
| pl | Choroba Dyggve, Melchiora i Clausena | |
| cs | Dyggveho-Melchiorova-Clausenova choroba | Dyggve-Melchior-Clausenova choroba |
| uk | Хвороба Дигве-Мельхіора-Клаузена | |
| zh | Dyggve-Melchior-Clausen综合征 | |
| tr | Dyggve-Melchior-Clausen hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 223800 | E | validated | |
| OMIM | 304950 | BTNT | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | index | validated |
| MONDO | 0009130 | E | validated | |
| MeSH | C535726 | E | validated | |
| UMLS | C0265286 | E | validated | |
| GARD | 6295 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DYM | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:21317 | ENSG00000141627 | 607461 | 18q21.1 | dymeclin | 21280149[PMID]_12554689[PMID]_18996921[PMID]_12491225[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_[EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
59 annotations · validated 2021-06-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003521 | Disproportionate short-trunk short stature | |
| HP:0001508 | Failure to thrive | |
| HP:0001249 | Intellectual disability | |
| HP:0002651 | Spondyloepimetaphyseal dysplasia | |
| Frequent (79-30%) | ||
| HP:0040163 | Abnormal pelvis bone morphology | |
| HP:0003368 | Abnormality of the femoral head | |
| HP:0003272 | Abnormality of the hip bone | |
| HP:0000925 | Abnormality of the vertebral column | |
| HP:0005106 | Abnormality of the vertebral endplates | |
| HP:0004568 | Beaking of vertebral bodies | |
| HP:0006429 | Broad femoral neck | |
| HP:0000885 | Broad ribs | |
| HP:0000280 | Coarse facial features | |
| HP:0002656 | Epiphyseal dysplasia | |
| HP:0001288 | Gait disturbance | |
| HP:0031233 | Horizontal inferior border of scapula | |
| HP:0003090 | Hypoplasia of the capital femoral epiphysis | |
| HP:0003274 | Hypoplastic acetabulae | |
| HP:0000946 | Hypoplastic ilia | |
| HP:0008786 | Iliac crest serration | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0003690 | Limb muscle weakness | |
| HP:0100255 | Metaphyseal dysplasia | |
| HP:0000252 | Microcephaly | |
| HP:0001270 | Motor delay | |
| HP:0000768 | Pectus carinatum | |
| HP:0000926 | Platyspondyly | |
| HP:0008905 | Rhizomelia | |
| HP:0003510 | Severe short stature | |
| HP:0003026 | Short long bone | |
| HP:0000470 | Short neck | |
| HP:0010306 | Short thorax | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0003183 | Wide pubic symphysis | |
| Occasional (29-5%) | ||
| HP:0003028 | Abnormality of the ankles | |
| HP:0003467 | Atlantoaxial instability | |
| HP:0004242 | Broad carpal bones | |
| HP:0002812 | Coxa vara | |
| HP:0000750 | Delayed speech and language development | |
| HP:0003698 | Difficulty standing | |
| HP:0031987 | Diminished ability to concentrate | |
| HP:0002359 | Frequent falls | |
| HP:0002857 | Genu valgum | |
| HP:0006633 | Glenoid fossa hypoplasia | |
| HP:0000752 | Hyperactivity | |
| HP:0001347 | Hyperreflexia | |
| HP:0003311 | Hypoplasia of the odontoid process | |
| HP:0002540 | Inability to walk | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0001377 | Limited elbow extension | |
| HP:0003066 | Limited knee extension | |
| HP:0002465 | Poor speech | |
| HP:0001538 | Protuberant abdomen | |
| HP:0002788 | Recurrent upper respiratory tract infections | |
| HP:0002747 | Respiratory insufficiency due to muscle weakness | |
| HP:0001285 | Spastic tetraparesis | |
| Excluded (0%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0007957 | Corneal opacity | |
| HP:0000365 | Hearing impairment | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 33216345[PMID]_32766185[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/239
- This record as JSON: /data/d/239.json