ORPHA:48431
Congenital cataracts-facial dysmorphism-neuropathy syndrome
Synonyms: CCFDN
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare autosomal recessive multiple congenital anomalies/dysmorphic syndrome characterized by abnormalities of the eye; mildly dysmorphic facial features; and a hypo/demyelinating, symmetric, distal peripheral neuropathy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital cataracts-facial dysmorphism-neuropathy syndrome | CCFDN |
| fr | Syndrome de cataracte congénitale-dysmorphie faciale-neuropathie | = en |
| de | Kongenitale Katarakt-Gesichtsdysmorphie-Neuropathie-Syndrom | CCFDN-Syndrom |
| es | Síndrome de catarata congénita-dismorfia facial-neuropatía | |
| it | Cataratta congenita - dismorfismi facciali - neuropatia | = en |
| nl | Congenitale cataracten - faciale dysmorfie - neuropathie-syndroom | = en |
| pt | Síndrome de cataratas congénitas-dismorfia facial-neuropatia | = en |
| pl | Zaćma wrodzona -dysmorfia twwarzy - neuropatia | = en |
| cs | Syndrom zahrnující vrozenou kataraktu, faciální dysmorfismus a neuropatii | = en |
| uk | Синдром вродженої катаракти-дизморфізму обличчя-невропатії | = en |
| zh | 先天性白内障-面部畸形-神经病变综合征 | = en |
| tr | Doğumsal katarakt-fasiyal dismorfizm-nöropati sendromu | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604168 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0011402 | E | validated | |
| MeSH | C565822 | E | validated | |
| UMLS | C1858726 | 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 (8):
- ORPHA:98098Autosomal recessive degenerative and progressive cerebellar ataxia
rare genetic diseases; rare neurological diseases - ORPHA:140459Autosomal recessive hereditary demyelinating motor and sensory neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:207028Cerebellar ataxia with peripheral neuropathy
rare genetic diseases; rare neurological diseases - 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:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:98574Syndromic epicanthus
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CTDP1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2498 | ENSG00000060069 | 604927 | 18q23 | CTD phosphatase subunit 1 | 20301787[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 170 cases | Worldwide | Case(s) | Validated | 20301787[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.
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HPO phenotypes
32 annotations · validated 2023-10-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003134 | Abnormality of peripheral nerve conduction | |
| HP:0000518 | Cataract | |
| HP:0034681 | Finger joint contracture | |
| HP:0005830 | Flexion contracture of toe | |
| HP:0001263 | Global developmental delay | |
| HP:0000044 | Hypogonadotropic hypogonadism | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0002808 | Kyphosis | |
| HP:0010620 | Malar prominence | |
| HP:0000482 | Microcornea | |
| HP:0000347 | Micrognathia | |
| HP:0000568 | Microphthalmia | |
| HP:0000639 | Nystagmus | |
| HP:0003401 | Paresthesia | |
| HP:0007182 | Peripheral hypomyelination | |
| HP:0000763 | Sensory neuropathy | |
| HP:0004322 | Short stature | |
| HP:0000486 | Strabismus | |
| Frequent (79-30%) | ||
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0030890 | Hyperintensity of cerebral white matter on MRI | |
| HP:0000939 | Osteoporosis | |
| HP:0002650 | Scoliosis | |
| Occasional (29-5%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0003319 | Abnormality of the cervical spine | |
| HP:0008942 | Acute rhabdomyolysis | |
| HP:0001251 | Ataxia | |
| HP:0002072 | Chorea | |
| HP:0001310 | Dysmetria | |
| HP:0001943 | Hypoglycemia | |
| HP:0002080 | Intention tremor | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 16939648[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/48431
- This record as JSON: /data/d/48431.json