It is characterized by the albinism, black lock at the temporal occipital region. It was studied in the Kurdish girl. She had white eye brows and eyelashes. She had blue irises and the depigmentation of retina. She was almost deaf. The skin of affected individual was albino pale. There were brown patches on the depigmented [...]
The ABCD syndrome denotes albinism, black lock, cell migration of the gut which involves neurocytes, and the deafness which is sensorinueral. The mutation in the gene is responsible for it. The gene which is involved is known as EDNRB which stands for endothelin B receptor gene. It is considered to be a type of waardenburg [...]
It occurs due to the mutation in FGDI gene. It encodes a GEF which refers to guanine nucleotide exchange factor. It activates a cdc 42 which is a member of Ras homology. It belongs to the family of p 21 GTPase. A cdc 42 acivates the fibroblasts which forms the filopodia. It also forms the [...]
It is also known as the Aase syndrome. It is inherited and is autosomal dominant. There is an underdevelopment of the bone marrow. It forms the blood cells which may lead to anemia. It is named after the pediatricians of America which are known as the J M Aase and D W Smith. The genetic [...]
This is characterized by 1. Short Height 2. Hypertelorism, that is abnormally increased space between two bodily parts or organs mostly eyes. 3. Laxity i.e looseness of joints 4. Downward projecting palpebral fissures with anteverted [ rotated forward or backward] nostrils 5. Under developed brain growth, scrotum resembling a shawl. 6 The physical phenotype is [...]
It is an inherited disorder. It is also known as the Aarskog Scott syndrome. It is an X linked recessive disorder. The male child is at more risk as compared to the female child. The female child is at more risk of becoming carriers. There are mild manifestations of this syndrome in females. It is [...]
It is also known as the short syndrome. In this condition there are many birth defects. These defects involve the different organ systems. What are the signs and symptoms of Aarskog Ose Pande Syndrome? This is characterized by the presence of Short Height Extra Extensibility Of The Joints Depression In The Eye Delay In The [...]
It is defined as a syndrome in which the lymph vessels are not fully formed. It is a congenital condition. It is autosomal recessive disorder and its genetic cause is unidentified. Some suggest that the chromosome 15 q is involved. As the lymph vessels are involved it is considered to be lymphangiogenetic in origin. It [...]
With the help of prenatal ultrasound, this can be detected even before the birth. DNA test is also helpful in this regard. It is helpful to detect the homozygosity in which two copies are inherited. These inherited copied are of the mutant genes due to which it becomes a lethal condition and may lead to [...]
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