German syndrome

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.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 3812590
 German syndrome in sibs.
Lewin SO, Hughes HE.
Am J Med Genet. 1987;26(2):385-90.
Hypokinesia
Arthrogryposis Females Homo sapiens Infant Infant, Newborn Jews Male Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 32

HPO ID Term Frequency
HP:0000194 Open mouth Very frequent (99-80%)
HP:0000232 Everted lower lip vermilion Very frequent (99-80%)
HP:0000248 Brachycephaly Very frequent (99-80%)
HP:0000268 Dolichocephaly Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000348 High forehead Very frequent (99-80%)
HP:0000431 Wide nasal bridge Very frequent (99-80%)
HP:0000486 Strabismus Very frequent (99-80%)
HP:0000534 Abnormal eyebrow morphology Very frequent (99-80%)
HP:0001004 Lymphedema Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001252 Muscular hypotonia Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001376 Limitation of joint mobility Very frequent (99-80%)
HP:0002015 Dysphagia Very frequent (99-80%)
HP:0002167 Neurological speech impairment Very frequent (99-80%)
HP:0002375 Hypokinesia Very frequent (99-80%)
HP:0002804 Arthrogryposis multiplex congenita Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0005280 Depressed nasal bridge Very frequent (99-80%)
HP:0011800 Midface retrusion Very frequent (99-80%)
HP:0000202 Oral cleft Frequent (79-30%)
HP:0000218 High palate Frequent (79-30%)
HP:0000364 Hearing abnormality Frequent (79-30%)
HP:0000470 Short neck Frequent (79-30%)
HP:0000664 Synophrys Frequent (79-30%)
HP:0100490 Camptodactyly of finger Frequent (79-30%)
HP:0000028 Cryptorchidism Occasional (29-5%)
HP:0000062 Ambiguous genitalia Occasional (29-5%)
HP:0000494 Downslanted palpebral fissures Occasional (29-5%)
HP:0001636 Tetralogy of Fallot Occasional (29-5%)
HP:0001671 Abnormal cardiac septum morphology Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID