Additionally, if the edema becomes too severe, patients may experience difficulty breathing due to blockage of the airway. Diagnosis
Reinkes edema is often diagnosed by an Ear, Nose & Throat (ENT) specialist or an Otolaryngologist by examination of the vocal cords. First, the doctor will review the patients medical history and symptoms, such as hoarseness, dysphonia, and reduced vocal range. There is no familial or hereditary link to Reinkes edema. Because Reinkes edema is linked heavily to smoking, the doctor will need to know if the patient is a habitual smoker. Once the patients history is reviewed, the vocal cords will be visualized using laryngoscopy, a technique in which a tube with a camera (endoscope) is passed through the nose and down the larynx. Laryngoscopes can be rigid or flexible. Flexible laryngoscopes, such as fiber laryngoscopes, allow the patient to produce sound as the tube is placed, and therefore allows the doctor to visualize movement of the vocal cord. The use of rigid laryngoscopes generally requires general anaesthesia due to the discomfort involved in distracting the soft tissues of the mouth and pharynx. Based on the results of the laryngoscopy, Reinkes edema can be classified using a standardized system set in place by Yonekawa.
Seckel syndrome, or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harpers syndrome, Virchow–Seckel dwarfism and bird-headed dwarf of Seckel) is an extremely rare congenital nanosomic disorder. Inheritance is autosomal recessive. It is characterized by intrauterine growth restriction and postnatal dwarfism with a small head, narrow bird-like face with a beak-like nose, large eyes with down-slanting palpebral fissures, receding mandible and intellectual disability. A mouse model has been developed. This mouse model is characterized by a severe deficiency of ATR protein. These mice have high levels of replicative stress and DNA damage. Adult Seckel mice display accelerated ageing. These findings are consistent with the DNA damage theory of aging. Symptoms and signs
Symptoms include:

intellectual disability (more than half of the patients have an IQ below 50)
microcephaly
sometimes pancytopenia (low blood counts)
cryptorchidism in males
low birth weight
dislocations of pelvis and elbow
unusually large eyes
blindness or visual impairment
large, low-set ears
small chin due to receded lower jaw

Genetics
It is believed to be caused by defects of genes on chromosome 3 and 18. One form of Seckel syndrome can be caused by mutation in the gene encoding the ataxia telangiectasia and Rad3-related protein (ATR) which maps to chromosome 3q22.1-q24. This gene is central in the cells DNA damage response and repair mechanism. Types include:

Diagnosis
Treatment
History
The syndrome was named after German-American physician Helmut Paul George Seckel (1900–1960). The synonym Harpers syndrome was named after Rita G. Harper. See also
Koo-Koo the Bird Girl

References
External links
Seckels syndrome at Who Named It?