German syndrome
historical
Synonyms: Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- historical
German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | German syndrome | Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome |
| fr | Syndrome de German | Syndrome d'hypotonie-arthrogrypose-dysmorphie faciale-lymphoedème |
| de | German-Syndrom | Hypotonie-Arthrogrypose-Gesichtsdysmorphie-Lymphödem-Syndrom |
| es | Síndrome de German | Síndrome de hipotonía-artrogriposis-dismorfia facial-linfedema |
| it | Sindrome di German | |
| nl | Syndroom van German | Hypotonie - artrogrypose - faciale dysmorfie - lymfoedeem-syndroom |
| pt | Síndrome German | Síndrome de hipotonia-artrogripose-dismorfia facial-linfedema |
| pl | Zespół Germana | = en |
| cs | Germanův syndrom | = en |
| uk | Германський синдром | Гіпотонія - артрогрипоз - дисморфізм обличчя - набряковий синдром |
| zh | German综合征 | German综合征 |
| tr | German sendromu | Hipotoni-artrogripozis-fasiyal dismorfizm-lenfödem sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 231080 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0009272 | E | validated | |
| MeSH | C562543 | E | validated | |
| UMLS | C3887495 | 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 (5):
- ORPHA:109007Arthrogryposis syndrome
rare developmental anomalies during embryogenesis - ORPHA:2416Congenital primary lymphedema without systemic or visceral involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare circulatory system diseases - ORPHA:723416Genetic arthrogryposis syndrome
rare genetic diseases - ORPHA:471383Genetic lethal multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases - ORPHA:459787Lethal multiple congenital anomalies/dysmorphic syndrome
rare developmental anomalies during embryogenesis
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 | 3812590[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3812590[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
32 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000534 | Abnormal eyebrow morphology | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0002804 | Arthrogryposis multiplex congenita | |
| HP:0000248 | Brachycephaly | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000268 | Dolichocephaly | |
| HP:0002015 | Dysphagia | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0001263 | Global developmental delay | |
| HP:0000348 | High forehead | |
| HP:0002375 | Hypokinesia | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0001004 | Lymphedema | |
| HP:0000347 | Micrognathia | |
| HP:0011800 | Midface retrusion | |
| HP:0000194 | Open mouth | |
| HP:0004322 | Short stature | |
| HP:0000486 | Strabismus | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0100490 | Camptodactyly of finger | |
| HP:0000364 | Hearing abnormality | |
| HP:0000218 | High palate | |
| HP:0000202 | Orofacial cleft | |
| HP:0000470 | Short neck | |
| HP:0000664 | Synophrys | |
| Occasional (29-5%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0000062 | Ambiguous genitalia | |
| HP:0000028 | Cryptorchidism | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0001636 | Tetralogy of Fallot | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2077
- This record as JSON: /data/d/2077.json