Presentation
Entire Body System
- Disability
[…] frontal hairline Low-set frontal hairline [ more ] 0000294 Submucous cleft hard palate 0000176 5%-29% of people have these symptoms Camptodactyly of finger Permanent flexion of the finger 0100490 Glossoptosis Retraction of the tongue 0000162 Intellectual disability [rarediseases.info.nih.gov]
- Short Stature
[…] distal phalanx of finger Short outermost finger bone 0009882 Short foot Short feet Small feet [ more ] 0001773 Short stature Decreased body height Small stature [ more ] 0004322 Short toe Short toes Stubby toes [ more ] 0001831 Tapered finger Tapered [rarediseases.info.nih.gov]
Cardiovascular
- Tachycardia
Orpha Number: 3201 Definition This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of [rarediseases.info.nih.gov]
Musculoskeletal
- Decrease in Height
[…] body height Small stature [ more ] 0004322 Short toe Short toes Stubby toes [ more ] 0001831 Tapered finger Tapered fingertips Tapering fingers [ more ] 0001182 30%-79% of people have these symptoms Aplasia/Hypoplasia of the distal phalanges of the toes [rarediseases.info.nih.gov]
- Small Head
[…] skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ] 0000252 Short 4th metacarpal Shortened 4th long bone of hand 0010044 Percent of people who have these symptoms is not available [rarediseases.info.nih.gov]
- Joint Dislocation
dislocation Joint dislocations Recurrent joint dislocations [ more ] 0001373 Low anterior hairline Low frontal hairline Low-set frontal hairline [ more ] 0000294 Submucous cleft hard palate 0000176 5%-29% of people have these symptoms Camptodactyly of [rarediseases.info.nih.gov]
Eyes
- Antimongoloid Slant
Clinical description An additional feature may be an antimongoloid slant of the palpebral fissures. Etiology Etiology remains unknown. Last updated: 9/1/2009 Symptoms Symptoms This table lists symptoms that people with this disease may have. [rarediseases.info.nih.gov]
Treatment
You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]
Etiology
Etiology Etiology remains unknown. Last updated: 9/1/2009 Symptoms Symptoms This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. [rarediseases.info.nih.gov]
Epidemiology
Epidemiology It has initially been reported in six patients from three generations of one family. Four affected members of another family manifesting a similar constellation of clinical features have recently been reported. [rarediseases.info.nih.gov]