ORPHA:1327
Camptodactyly syndrome, Guadalajara type 1
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Camptodactyly syndrome, Guadalajara type 1 | |
| fr | Camptodactylie de Guadalajara type 1 | |
| de | Kamptodaktylie Guadalajara Typ 1 | |
| es | Síndrome de camptodactilia de Guadalajara tipo 1 | |
| it | Camptodattilia di Guadalajara, tipo 1 | |
| nl | Camptodactyliesyndroom, Guadalajara-type 1 | |
| pt | Síndrome de camptodactilia, Guadalajara tipo 1 | |
| pl | Zespół kamptodaktylii Guadalajara typu 1 | |
| cs | Syndrom s kamptodaktylií, guadalajarský typ 1 | |
| uk | Синдром камптодактилії Гвадалахара, тип 1 | |
| zh | 先天性指屈曲综合征，瓜达拉哈拉1型 | |
| tr | Kamptodaktili sendromu, Guadalajara tip 1 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 211910 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| MONDO | 0008898 | E | validated | |
| MeSH | C537970 | E | validated | |
| UMLS | C1859359 | E | validated | |
| GARD | 1067 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 7192193[PMID]_7681735[PMID]_8116673[PMID]_12002144[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7192193[PMID]_7681735[PMID]_8116673[PMID]_12002144[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
47 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0006292 | Abnormality of dental eruption | |
| HP:0009907 | Attached earlobe | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0000689 | Dental malocclusion | |
| HP:0012368 | Flat face | |
| HP:0008551 | Microtia | |
| HP:0011800 | Midface retrusion | |
| HP:0010807 | Open bite | |
| HP:0000768 | Pectus carinatum | |
| HP:0000767 | Pectus excavatum | |
| HP:0000506 | Telecanthus | |
| Frequent (79-30%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0000248 | Brachycephaly | |
| HP:0001156 | Brachydactyly | |
| HP:0002967 | Cubitus valgus | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0000286 | Epicanthus | |
| HP:0001263 | Global developmental delay | |
| HP:0001822 | Hallux valgus | |
| HP:0000218 | High palate | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000995 | Melanocytic nevus | |
| HP:0000252 | Microcephaly | |
| HP:0000482 | Microcornea | |
| HP:0000774 | Narrow chest | |
| HP:0000275 | Narrow face | |
| HP:0000160 | Narrow mouth | |
| HP:0003691 | Scapular winging | |
| HP:0001250 | Seizure | |
| HP:0003196 | Short nose | |
| HP:0004322 | Short stature | |
| HP:0001831 | Short toe | |
| HP:0002414 | Spina bifida | |
| HP:0001770 | Toe syndactyly | |
| HP:0009891 | Underdeveloped supraorbital ridges | |
| Occasional (29-5%) | ||
| HP:0000581 | Blepharophimosis | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000276 | Long face | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000960 | Sacral dimple | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0000664 | Synophrys | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1327
- This record as JSON: /data/d/1327.json