Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
Synonyms: SMD-CRD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- No data available
- Status
- active
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | SMD-CRD |
| fr | Syndrome de dysplasie spondylo-métaphysaire-dystrophie des cônes et des bâtonnets | SMD-CRD · Syndrome de dysplasie spondylo-métaphysaire-dystrophie cone-rod |
| de | Spondylometaphysäre Dysplasie mit Zapfen-Stäbchendystrophie | = en |
| es | Síndrome de displasia espondilometafisaria-distrofia de conos-bastones | = en |
| it | Displasia spondilometafisaria - distrofia dei coni e dei bastoncelli | = en |
| nl | Spondylometafysaire dysplasie - kegel-staafdystrofie-syndroom | = en |
| pt | DSíndrome de displasia espondilometafisária-distrofia de cones e bastonetes | = en |
| pl | Dysplazja kręgowo-przynasadowa - dystrofia czopków i pręcików | = en |
| cs | Syndrom zahrnující spondylometafyzární dysplázii a dystrofii tyčinek a čípků | = en |
| uk | Синдром спондилометафізарної дисплазії - конусовидної дистрофії | = en |
| zh | 脊椎干骺端发育不良-视锥-视杆细胞营养不良综合征 | = en |
| tr | Spondilometafizer displazi-koni-çubuk distrofisi sendromu | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608940 | E | validated | |
| ICD-10 | Q77.8 | NTBT | attributed | validated |
| ICD-11 | LD24.4 | NTBT | index | validated |
| MONDO | 0012160 | E | validated | |
| UMLS | C4304887 | E | validated | |
| GARD | 10647 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:254Spondylometaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PCYT1A | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:8754 | ENSG00000161217 | 123695 | 3q29 | phosphate cytidylyltransferase 1A, choline | 24387990[PMID]_24387991[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 18 cases | Worldwide | Case(s) | Validated | 24387990[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
39 annotations · validated 2021-08-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0002979 | Bowing of the legs | |
| HP:0006487 | Bowing of the long bones | |
| HP:0001156 | Brachydactyly | |
| HP:0000548 | Cone/cone-rod dystrophy | |
| HP:0002812 | Coxa vara | |
| HP:0003015 | Flared metaphysis | |
| HP:0010583 | Ivory epiphyses | |
| HP:0003025 | Metaphyseal irregularity | |
| HP:0005054 | Metaphyseal spurs | |
| HP:0003300 | Ovoid vertebral bodies | |
| HP:0000926 | Platyspondyly | |
| HP:0030329 | Retinal thinning | |
| HP:0008905 | Rhizomelia | |
| HP:0003510 | Severe short stature | |
| HP:0003026 | Short long bone | |
| HP:0010049 | Short metacarpal | |
| HP:0009803 | Short phalanx of finger | |
| HP:0000505 | Visual impairment | |
| Frequent (79-30%) | ||
| HP:0000539 | Abnormality of refraction | |
| HP:0000887 | Cupped ribs | |
| HP:0031171 | Femoral spur | |
| HP:0000946 | Hypoplastic ilia | |
| HP:0003375 | Narrow greater sciatic notch | |
| Occasional (29-5%) | ||
| HP:0000589 | Coloboma | |
| HP:0007957 | Corneal opacity | |
| HP:0009918 | Ectopia pupillae | |
| HP:0012153 | Hypotriglyceridemia | |
| HP:0001132 | Lens subluxation | |
| HP:0007401 | Macular atrophy | |
| HP:0000568 | Microphthalmia | |
| HP:0000639 | Nystagmus | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0001105 | Retinal atrophy | |
| HP:0002650 | Scoliosis | |
| HP:0000486 | Strabismus | |
| HP:0007688 | Undetectable light- and dark-adapted electroretinogram | |
| Excluded (0%) | ||
| HP:0001249 | Intellectual disability | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 24387991[PMID]_30559292[PMID]_24476460[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85167
- This record as JSON: /data/d/85167.json