Presentation
Entire Body System
- Coarctation of the Aorta
Orpha Number: 1338 Definition A rare, genetic, multiple congenital anomalies syndrome characterized by congenital heart defects (e.g. coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas [rareguru.com]
- Multiple Congenital Anomalies
Orpha Number: 1338 Definition A rare, genetic, multiple congenital anomalies syndrome characterized by congenital heart defects (e.g. coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas [rareguru.com]
- Pallister-Hall Syndrome
11 Focal cortical dysplasia: a genotype-phenotype analysis of polymorphisms and mutations in the TSC genes. 54 61 Gumbinger C...Fauser S 19175396 2009 12 Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall [malacards.org]
- Precocious Puberty
[…] polysyndactyly in a sister and brother. 56 Orstavik KH...Sorland SJ 1516223 1992 5 TSC1 loss synergizes with KRAS activation in lung cancer development in the mouse and confers rapamycin sensitivity. 54 61 Liang MC...Wong KK 19966866 2010 6 Central precocious [malacards.org]
Face, Head & Neck
- Hypertelorism
30%-79% of people have these symptoms 2-3 finger syndactyly Webbed 2nd-3rd fingers 0001233 Benign neoplasm of the central nervous system 0100835 Cryptorchidism Undescended testes Undescended testis [ more ] 0000028 5%-29% of people have these symptoms Hypertelorism [rarediseases.info.nih.gov]
Diseases related with Hypertelorism and Retrognathia In the following list you will find some of the most common rare diseases related to Hypertelorism and Retrognathia that can help you solving undiagnosed cases. [mendelian.co]
Psychiatrical
- Suggestibility
Want to suggest a symptom? Please send suggestions to RareGuru! [rareguru.com]
Urogenital
- Cryptorchidism
[…] arteriosus 0001643 Subvalvular aortic stenosis Narrowing of blood vessel below aortic heart valve 0001682 30%-79% of people have these symptoms 2-3 finger syndactyly Webbed 2nd-3rd fingers 0001233 Benign neoplasm of the central nervous system 0100835 Cryptorchidism [rarediseases.info.nih.gov]
[…] forehead Poor speech Broad nasal tip Delayed myelination Apraxia Abnormality of the skeletal system Polydactyly Peripheral neuropathy Flexion contracture of thumb Spastic paraplegia Holoprosencephaly Increased intracranial pressure Adducted thumb Bilateral cryptorchidism [mendelian.co]