German syndrome
Findings
No curated finding names German syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0009272), read 2026-09-29. CC BY 4.0.
Features
32 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal eyebrow morphologyHPOHP:0000534
- Very frequent (80% to 99% of cases)
- Abnormal speech patternHPOHP:0002167
- Very frequent (80% to 99% of cases)
- Arthrogryposis multiplex congenitaHPOHP:0002804
- Very frequent (80% to 99% of cases)
- BrachycephalyHPOHP:0000248
- Very frequent (80% to 99% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Very frequent (80% to 99% of cases)
- DolichocephalyHPOHP:0000268
- Very frequent (80% to 99% of cases)
Show the remaining 20
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Limitation of joint mobilityHPOHP:0001376
- Very frequent (80% to 99% of cases)
- LymphedemaHPOHP:0001004
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Midface retrusionHPOHP:0011800
- Very frequent (80% to 99% of cases)
- Open mouthHPOHP:0000194
- Very frequent (80% to 99% of cases)