Presentation
Entire Body System
- Lymphedema
There is one individual reported with swelling (lymphedema) of the legs. It is uncertain whether the lymphedema was due to the obesity or is a separate finding. [rarediseases.org]
- Weight Gain
Increase weight gain and obesity is reported in older individuals. There is one individual reported with swelling (lymphedema) of the legs. It is uncertain whether the lymphedema was due to the obesity or is a separate finding. [rarediseases.org]
- Swelling
There is one individual reported with swelling (lymphedema) of the legs. It is uncertain whether the lymphedema was due to the obesity or is a separate finding. [rarediseases.org]
- Arachnodactyly
These may include abnormally long, slender fingers (arachnodactyly); short first toes; or deformities in which the feet are abnormally twisted out of position or shape (clubfeet). [rarediseases.org]
Respiratoric
- Aspiration
Reports exist of incoordination of swallowing which leads to aspiration which can lead to pneumonia and feeding difficulties. Deaths have been reported due to respiratory problems. [rarediseases.org]
Eyes
- Strabismus
The eyes may be small (microopthalmia) or they may be an abnormal deviation of one eye in relation to the other (strabismus). [rarediseases.org]
Musculoskeletal
- Short Arm
arm of chromosome 5 and the short arm of chromosomes 13,14,15,21,or 22). [rarediseases.org]
- Dolichocephaly
The head may be unusually large (macrocephaly) and has been described as long from front to back (dolichocephaly). There may also be a broad forehead. [rarediseases.org]
Psychiatrical
- Suggestibility
Ultrasound studies may reveal characteristic findings that suggest a chromosomal disorder or other developmental abnormalities in the fetus. [rarediseases.org]
Face, Head & Neck
- Depressed Nasal Bridge
The eyebrows may be sparse and a depressed nasal bridge may be present, with a broad nasal tip and the nose itself may be short. [rarediseases.org]
Neurologic
- Seizure
Abnormal episodes of uncontrolled electrical activity in the brain (seizures) are frequently reported and the seizures may require multiple medications. [rarediseases.org]
- Echolalia
Speech is often delayed and children may have echolalia (repetitive speech patterns- like the child is echoing things that they have heard at some time in their life.). There may be repetitive movements of the hands (stereotypic movements). [rarediseases.org]