Adducted thumbs-arthrogryposis syndrome, Christian type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism ('myopathic' stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, microgenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Adducted thumbs-arthrogryposis syndrome, Christian type | |
| fr | Syndrome des pouces en adduction-arthrogrypose, type Christian | |
| de | Adduzierte Daumen-Arthrogrypose-Syndrom Typ Christian | |
| es | Síndrome de pulgares en aducción-artrogriposis, tipo Christian | |
| it | Sindrome pollici addotti-artrogriposi, tipo Christian | |
| nl | Geadduceerde duimen - artrogrypose-syndroom, Christian-type | |
| pt | Síndrome de polegares adutos-artrogripose, tipo Christian | |
| pl | Zespół przywiedzionych kciuków i artrogrypozy, typ Christiana | |
| cs | Syndrom zahrnující addukované palce na rukou a artrogrypózu, Christianův typ | |
| uk | Синдром доданих великих пальців рук-артрогрипозу, тип Крістіану | |
| zh | 拇指内收-关节挛缩综合征，Christian型 | |
| tr | Addukte başparmak-artrogripozis sendromu, Christian tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 201550 | E | validated | |
| ICD-10 | Q74.8 | NTBT | attributed | validated |
| MONDO | 0008724 | E | validated | |
| UMLS | C4304055 | E | validated | |
| GARD | 10277 | 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:1037Arthrogryposis multiplex congenita
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:728642Genetic syndrome or malformation associated with head and neck malformations
rare genetic diseases - ORPHA:156237Syndrome or malformation associated with head and neck malformations
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial 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 | 9 cases | Worldwide | Case(s) | Validated | 6662143[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6662143[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2952
- This record as JSON: /data/d/2952.json