Camptodactyly syndrome, Guadalajara type 2
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- historical
Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Camptodactyly syndrome, Guadalajara type 2 | |
| fr | Camptodactylie de Guadalajara type 2 | |
| de | Kamptodaktylie Guadalajara Typ 2 | |
| es | Síndrome de camptodactilia de Guadalajara tipo 2 | |
| it | Camptodattilia di Guadalajara, tipo 2 | |
| nl | Camptodactyliesyndroom, Guadalajara-type 2 | |
| pt | Síndrome de camptodactilia, Guadalajara tipo 2 | |
| pl | Zespół kamptodaktylii Guadalajara typu 2 | |
| cs | Syndrom s kamptodaktylií, guadalajarský typ 2 | |
| uk | Синдром камптодактилії Гвадалахара, тип 2 | |
| zh | 先天性手指屈曲综合征，瓜达拉哈拉2型 | |
| tr | Kamptodaktili sendromu, Guadalajara tip 2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 211920 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| MONDO | 0008899 | E | validated | |
| MeSH | C537971 | E | validated | |
| UMLS | C2931680 | E | validated | |
| GARD | 1068 | 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:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:404574Genetic syndrome with limb reduction defects
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:294955Syndrome with limb reduction defects
rare developmental anomalies during embryogenesis; rare bone 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 | 2 cases | Worldwide | Case(s) | Validated | 4040823[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_4040823[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
13 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100490 | Camptodactyly of finger | |
| HP:0004634 | Cuboid-shaped vertebral bodies | |
| HP:0002827 | Hip dislocation | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000066 | Labial hypoplasia | |
| HP:0000252 | Microcephaly | |
| HP:0003065 | Patellar hypoplasia | |
| HP:0000767 | Pectus excavatum | |
| HP:0001885 | Short 2nd toe | |
| HP:0005643 | Short 3rd toe | |
| HP:0011917 | Short 5th toe | |
| HP:0004322 | Short stature | |
| HP:0001762 | Talipes equinovarus | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1326
- This record as JSON: /data/d/1326.json