Camptodactyly syndrome, Guadalajara type 3
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Camptodactyly syndrome, Guadalajara type 3 | |
| fr | Camptodactylie de Guadalajara type 3 | |
| de | Kamptodaktylie Guadalajara Typ 3 | |
| es | Síndrome de camptodactilia de Guadalajara tipo 3 | |
| it | Camptodattilia di Guadalajara tipo 3 | |
| nl | Camptodactyliesyndroom, Guadalajara-type 3 | |
| pt | Síndrome de camptodactilia, Guadalajara tipo 3 | |
| pl | Zespół kamptodaktylii, Guadalajara typ 3 | |
| cs | Syndrom kamptodaktylie, guadalajarský typ 3 | |
| uk | Синдром камптодактилії, гвадалахарський тип 3 | |
| zh | 先天性指屈曲综合征-瓜达拉哈拉3型 | |
| tr | Kamptodaktili sendromu, Guadalajara tip 3 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611929 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0012759 | E | validated | |
| MeSH | C567455 | E | validated | |
| UMLS | C2677809 | E | validated | |
| GARD | 10573 | 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 (4):
- ORPHA:404571Dysostosis of genetic origin with limb anomaly as a major feature
rare genetic diseases - ORPHA:364568Dysostosis with limb anomaly as a major feature
rare developmental anomalies during embryogenesis; rare bone 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
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 12401988[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_12401988[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.
HPO phenotypes
27 annotations · validated 2020-01-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0000929 | Abnormal skull morphology | |
| HP:0010761 | Broad columella | |
| HP:0006429 | Broad femoral neck | |
| HP:0000455 | Broad nasal tip | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000437 | Depressed nasal tip | |
| HP:0006402 | Distal shortening of limbs | |
| HP:0000324 | Facial asymmetry | |
| HP:0012368 | Flat face | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0001054 | Numerous nevi | |
| HP:0000938 | Osteopenia | |
| HP:0000278 | Retrognathia | |
| HP:0001773 | Short foot | |
| HP:0000470 | Short neck | |
| HP:0200055 | Small hand | |
| HP:0003298 | Spina bifida occulta | |
| HP:0012036 | Sternocleidomastoid amyotrophy | |
| HP:0430007 | Symblepharon | |
| HP:0000506 | Telecanthus | |
| HP:0000574 | Thick eyebrow | |
| HP:0000935 | Thickened cortex of long bones | |
| HP:0000465 | Webbed neck | |
| HP:0012810 | Wide nasal base | |
| Occasional (29-5%) | ||
| HP:0000054 | Micropenis | |
Annotation source: 12401988[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/488434
- This record as JSON: /data/d/488434.json