Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome
historical
Synonyms: Goodman camptodactyly
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
An extremely rare chondrodysplastic malformation syndrome characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome | Goodman camptodactyly |
| fr | Syndrome de camptodactylie-hyperplasie fibreuse-anomalies squelettiques | Camptodactylie de Goodman |
| de | Kamptodaktylie-fibröse Gewebehyperplasie-Skelettdysplasie-Syndrom | Kamptodaktylie Typ Goodman |
| es | Síndrome de camptodactilia-hiperplasia del tejido fibroso-anomalías esqueléticas | Camptodactilia de Goodman |
| it | Sindrome da camptodattilia, iperplasia del tessuto fibroso e displasia scheletrica | Camptodattilia di Goodman |
| nl | Camptodactylie - hyperplasie van fibreus weefsel - skeletanomalieën-syndroom | Camptodactylie van Goodman |
| pt | Síndrome de camptodactilia-hiperplasia do tecido fibroso-anomalias esqueléticas | Camptodactilia Goodman |
| pl | Kamptodaktylia -hiperplazja tkanki włóknistej - dysplazja szkieletowa | Kamptodaktylia Goodmana · Zespół kamptodaktylii-przerostu tkanki włóknistej-wad układu szkieletowego |
| cs | Syndrom zahrnující kamptodaktylii, hyperplázii vazivové tkáně a skeletální dysplázii | Goodmanova kamptodaktylie |
| uk | Синдром камптодактилії - гіперплазії фіброзної тканини - скелетних аномалій | Камптодактилія Гудмана |
| zh | 指屈曲-纤维组织增生-骨骼发育不良综合征 | Goodman指弯曲畸形 |
| tr | Kamptodaktili lifli doku hiperplazisi-iskelet displazisi sendromu | Goodman kamptodaktili |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 211930 | E | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| MONDO | 0008900 | E | validated | |
| MeSH | C537287 | E | validated | |
| UMLS | C5848327 | E | validated | |
| GARD | 1064 | 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 (3):
- 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 | 3 cases | Worldwide | Case(s) | Validated | 5046631[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 5046631[PMID]_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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1321
- This record as JSON: /data/d/1321.json