Albinism–deafness syndrome
Encyclopedia
Albinism–deafness syndrome (also known as "Woolf syndrome," and "Ziprkowski–Margolis syndrome") is a condition characterized by congenital
neural
deafness
and a severe or extreme piebald
-like phenotype with extensive areas of hypopigmentation
.
A locus at Xq26.3-q27.I has been suggested.
It has been suggested that it is a form of Waardenburg syndrome
type II.
Congenital disorder
A congenital disorder, or congenital disease, is a condition existing at birth and often before birth, or that develops during the first month of life , regardless of causation...
neural
Nervous system
The nervous system is an organ system containing a network of specialized cells called neurons that coordinate the actions of an animal and transmit signals between different parts of its body. In most animals the nervous system consists of two parts, central and peripheral. The central nervous...
deafness
Hearing impairment
-Definition:Deafness is the inability for the ear to interpret certain or all frequencies of sound.-Environmental Situations:Deafness can be caused by environmental situations such as noise, trauma, or other ear defections...
and a severe or extreme piebald
Piebald
A piebald or pied animal is one that has a spotting pattern of large unpigmented, usually white, areas of hair, feathers, or scales and normally pigmented patches, generally black. The colour of the animal's skin underneath its coat is also pigmented under the dark patches and unpigmented under...
-like phenotype with extensive areas of hypopigmentation
Hypopigmentation
Hypopigmentation is the loss of skin color. It is caused by melanocyte or melanin depletion, or a decrease in the amino acid tyrosine, which is used by melanocytes to make melanin.-Treatments:...
.
A locus at Xq26.3-q27.I has been suggested.
It has been suggested that it is a form of Waardenburg syndrome
Waardenburg syndrome
Waardenburg syndrome Waardenburg syndrome Waardenburg syndrome (also Waardenburg Shah Syndrome, Waardenburg-Klein syndrome, Mende's syndrome II, Van der Hoeve-Halbertsma-Waardenburg syndrome, Ptosis-Epicanthus syndrome, Van der Hoeve-Halbertsma-Gualdi syndrome, Waardenburg type Pierpont,[5] Van...
type II.