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Associated Conditions

As we continue to reach out to families who have a member affected by PRS, we have found there is usually another condition present. Through our reading, we have found several case studies which indicate only 15-17% of those with PRS have isolated PRS.

The conditions we list below are shown to make you aware of what else could be present in a child with PRS. This list was compiled using data from the families in our organization and material from medical articles we have read. We have tried to list basic symptoms, links to medical articles and links to support groups for that particular condition. This is still under construction due to the research involved. If you have information based on your own experience you can add to this page, please  

Our members felt it important to list these, so families will be aware of other conditions that can be present. You need to discuss these issues and your child's symptoms with a geneticist.


ADAM Sequence


Beckwith-Wiedemann


We are including a basic list of the characteristics involved, there are many other characteristics not listed here. Macroglossia (enlarged tongue which usually is not apparent by 6-8 years of age); Omphalocele, which is a defect in the abdominal wall, near the umbilical cord; umbilical hernia; Diastasis Recti (weak or separated abdominal muscles); visceramegaly-enlarged abdominal organs, particularly kidneys, liver and pancreas; hemi-hypertrophy-enlargement of one part of the body; Earlobe creases or pits behind the upper ear; Prominent occiput: enlarged back of the skull; Nevus Flammeus: a strawberry mark commonly found on the forehead and eyelids.


Bilateral femoral dysgenesis

Also known as Femoral-Facial Syndrome, main characteristics are underdeveloped thigh bones and unusual facial features.

Note: We have been unable to find out much information on this condition.


Catel-Manzke Syndrome

A rare genetic disorder including abnormalities of the fingers and the classic characteristics associated with PRS. Patients have an extra bone between the index and middle fingers In some cases, there may be additional abnormalities of the hand and they may also have an abnormally divided bone of the lower palm, a single, deep crease across the palms of the hands middle ear infections and feeding difficulties. Some affected infants may also have heart abnormalities.


Cerebro-costo-mandibular syndrome

Cerebro-costo-mandibular syndrome is a rare disorder characterized by rib malformations, various degrees of cerebral maldevelopment, mental deficiency, palatal defects, and micrognathia. This syndrome was first described in 1966. The majority of cases are sporadic, but a few instances of familial occurrence have been reported, some with an autosomal recessive pattern of inheritance. Mortality in early age has been high, probably mostly due to respiratory insufficiency secondary to rib abnormalities and flail chest. We report a mother and son with this disorder, suggesting autosomal dominant transmission.

Diastrophic dysplasia

http://gait.aidi.udel.edu/res695/homepage/pd_ortho/educate/clincase/didwarf.htm

An inherited type of dwarfism. Physical features present at birth include short limbed dwarfism, hitchhiker thumb and clubfeet. Abnormalities of the palate, such as cleft palate or submucous cleft, occurs in 50% of the patients.


Distal arthrogryposis

Also known as disastrophic dwarfism. It is characterized by short stature and short limbs, abnormal bone development, scoliosis, kyphhosis, changes of the outer ears and possible malformation of the head and facial area. Fingers may be short and fusion of joints can occur. Clubfeet are typically found as well as spina bifida and partial dislocation of joints.

Fluid filled sacs are often found on the ears of these infants as well as typical PRS findings (cleft palate, micrognathia). Respiratory problems often occur in these individuals.


FAS

http://depts.washington.edu/fadu


FAS is caused by exposure to alcohol during pregnancy. Research shows that alcohol damage to the developing baby occurs over a wide continuum.


Kniest Syndrome

Kniest Syndrome is a form of dwarfism characterized by short stature and unusually short, malformed arms and legs (short-limbed dwarfism); a short, "barrel-shaped" chest; swelling and stiffness of joints; abnormal sideways curvature of the spine (scoliosis); an abnormally flat face with protruding eyes and low nasal bridge; visual and/or hearing impairment; and/or other abnormalities.


Larsen Syndrome

Flat face, with depressed nasal bridge and prominent forehead. Hypertelorism, Dislocations of elbows, hips and knees. Talipes equinovalgus or varus. Delayed coalescence of the two calcaneal ossification centers. Occasional abnormalities are: Cleft palate and/or lip, abnormal segmentation of cervical vertebrae, scoliosis.


Miller-Dieker

Characteristics include a broad and high forehead, indentation of the temples, a slightly upturned tip of the nose, a thin upper lip and a small jaw, possibly cataracts, unusual ear shape and heart defects. Mental retardation, seizures, feeding difficulties and pneumonia are typical.


Moebius Syndrome

Moebius Syndrome is a rare disorder characterized by lifetime facial paralysis. People with Moebius Syndrome can't smile or frown, and they often can't blink or move their eyes from side to side. In some instances, the syndrome is also associated with physical problems in other parts of the body. Moebius Syndrome is extremely rare. Two important nerves, the sixth and seventh cranial nerves - are not fully developed, causing eye muscle and facial paralysis. The movements of the face; blinking, lateral eye movements, and facial expressions are controlled by these nerves. Many of the other 12 cranial nerves may also be affected, including the 3rd, 5th, 8th, 9th, 11th and 12th.

What Are the Symptoms?

The most apparent symptoms are related to facial expressions and function. In newborn infants, the first sign is an impaired ability to suck. Excessive drooling and crossed eyes may be present. In addition, there can be deformities of the tongue and jaw, and even of some limbs, including club foot and missing or webbed fingers. Most children have low muscle tone, particularly of the upper body.

Symptoms May Include: Lack of facial expression; inability to smile, feeding, swallowing and choking problems (sometimes tubes are necessary to thrive; be very careful with solid foods). keeping head back to swallow, eye sensitivity due to inability to squint (sunglasses and hats are very helpful), motor delays due to upper body weakness, absence of lateral eye movement, absence of blinking, strabismus (crossed eyes, correctable with surgery), drooling, high palate, short or deformed tongue, limited movement of tongue, submucous cleft palate, teeth problems, hearing problems (due to fluid in ears, tubes are sometimes necessary), speech difficulties (especially with closed mouth sounds and sounds involving the lips), minor mid-line anomalies, although they crawl and walk later, most Moebius Syndrome children eventually catch up. Speech problems often respond to therapy, but may persist due to impaired mobility of the tongue and lips. As children get older, the lack of facial expression and an inability to smile become the dominant visible symptoms. Moebius Syndrome is sometimes accompanied by Pierre Robin Sequence and Poland's Anomaly.


Nager Syndrome

http://www.nagerormillersynd.com

Miller Syndrome characteristics include downward slanting eyelids, cleft palate, recessed lower jaw, small cup shaped ears, and a broad nasal ridge, shortened and bowed forearms, incompletely developed ulnar and radius bones, missing or webbed fingers and toes, and abnormal growth of the tibia and fibula bones (lower legs). Occasional anomalies include heart defects, lung disease from chronic infection, extra nipples, stomach or kidney reflux, undescended testicles in males, dislocated hips, and difficult venous (vein) access.

Nager Syndrome characteristics include downward slanting eyelids, absence or underdeveloped lower jaw, malformed outer and middle ears (from mild to total absence), clefting of hard or soft palates, absence of lower eyelashes, scalp hair extending on to cheek, underdeveloped or missing thumbs, occasional absence of the radial limb, limitations of elbow extension may occur, legs and toes may also be affected. Some internal anomalies exist including stomach or kidney reflux.


Oto-Palatal Digital Syndrome


Popliteal pterygium

Extremely rare inherited disorder apparent at birth and characterized by webbed skin on the backs of and between the legs, facial abnormalities (including the cleft palate and cleft lip), malformations of the genitalia, and webbing or fusion of the fingers and toes.


Saethre-Chotzen Syndrome

Unusually short broad head, unbalanced appearance to the head, Hypertelorism, droopy eyelids, short fingers, webbed fingers.


Spondyloepiphyseal dysplasia

An inherited skeletal dwarfing condition. Symptoms include short stature, clubfeet and/or cleft palate, flat face with wide spread eyes, broad or barrel shaped chest and sternal or chest wall deformities.


Stickler Syndrome

http://www.sticklers.org

A connective tissue disorder which can affect the joints, eyes, palate, heart and hearing. It is autosomal dominant trait, meaning it can be passed on to both boys and girls from either parent and requires only one parent to be affected. With each pregnancy there is a fifty percent chance that the child with inherit Sticklers. It is believed that 25-30% of those with PRS have Sticklers also. Due to this being one of the most common associated conditions, we have created a separate page for Sticklers which details more of the disorder. Click here to get a more detailed description of Sticklers.


Toriello-Carey


Treacher Collins

A birth defect which may affect the size and shape of the ears, eyelids, cheek bones, and upper and lower jaws. The external ears are abnormal, there could be defect in the lower eyelid, cleft palate is present and scalp hair can extend on the cheeks. The extent of facial deformity varies from one affected individual to another. Another commonly used medical name for this syndrome is "mandibulofacial dysostosis."

Velocardiofacial Syndrome

http://www.vcfsef.org

Velo-cardio-facial syndrome (VCFS) is one of the most common genetic multiple anomaly syndromes in humans, perhaps second only to Down syndrome in frequency. A common feature of VCFS is retrognathia (retruded lower jaw) that is related to significant flattening of the skull base and posterior positioning of the glenoid fossa and temporomandibular joint. VCFS is a common cause of Robin sequence, second only to Stickler syndrome. In a report analyzing a large population of infants with Robin sequence, it was found that 11% had VCFS, second only to Stickler syndrome at 34%. In addition, of patients diagnosed with VCFS, 17% were initially diagnosed as having Robin sequence. Over 180 anomalies have been reported in association with VCFS. It is the most common syndrome associated with congenital heart disease, and the most common syndrome of cleft palate.

Weissenbacher-Zweymuller Syndrome

 

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