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Hypertrichosis (also called Ambras syndrome) is an abnormal amount of hair growth over the body;[1][2] extensive cases of hypertrichosis have informally been called werewolf syndrome,[3] because the appearance is similar to the werewolf. The two distinct types of hypertrichosis are generalized hypertrichosis, which occurs over the entire body, and localized hypertrichosis, which is restricted to a certain area.[1] Hypertrichosis can be either congenital (present at birth) or acquired later in life.[3][4] The excess growth of hair occurs in areas of the skin with the exception of androgen-dependent hair of the pubic area, face, and axillary regions.

 

 

 

WHS   Wolf-Hirschhorn Syndrome

                       

                                                

Signs and symptoms that can be associated with WHS include:

·         slow growth before birth

·         slow growth after birth (postnatal growth deficiency)

·         small head size

·         week cry in infancy

·         poor muscle tone (hypotonia)

·         seizures

·         severe developmental delays

·         severe delay of motor skills

·         crossed eyes (Strabismus)

·         widely spaced eyes (hypertelorism)

·         droopy eyelids (ptosis)

·         skin folds in the corner of the eyes (epicanthal folds)

·         cleft lip and/or palate

·         short upper lip and philtrum

·         small chin (micrognathia)

·         asymmetry of the skull (cranial asymmetry)

·         skin tag or pit in front of the ear (preauricular tag or pit)

·         downturned mouth

·         prominent triangular area of the forehead (glabella)

·         scalp defects on the center of the back of the head

·         underdeveloped fingerprints (dermal ridges)

·         a single crease across the palm of the hands (Simian crease)

·         misaligned bones in the front part of the foot/clubfoot (talipes equinovarus)

·         turned up fingernails

·         urinary opening on the underside of the penis (hypospadias)

·         undescended testicles (cryptorchidism)

·         dimple at the base of the spine

·         heart defects

·         curvature of the spine (scoliosis)

·         underdeveloped bones of the hands and pelvis

Diagnosis

When WHS is suspected, chromosome analysis should be performed and the laboratory should be informed as to what syndrome is suspected. This ensures that the laboratory carefully looks at chromosome 4 and if the deletion is not visible, then fluorescent in situ hybridization (FISH) can be done specifically for the critical 4p16.3 region of chromosome 4. FISH analysis is aprocedure that is used in the laboratory to identify pieces of genetic material that are too small to see by looking at the chromosome under the microscope.

Treatment and management

There is no treatment for the underlying condition of WHS. Treatment and management for patients who have WHS are specific to each individual. For example, some individuals who have WHS may have heart defects or a cleft lip and/or palate that may require surgery, while others may not. Therefore, there is no specific treatment for individuals who have WHS, rather, the treatment and management is geared toward that particular individual’s needs and is likely to include several medical specialists