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,
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.
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
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.
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.
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.
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 is caused by exposure to alcohol during pregnancy. Research shows
that alcohol damage to the developing baby occurs over a wide continuum.
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.
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.
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
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.
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
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.
Unusually short broad head, unbalanced appearance to the head,
Hypertelorism, droopy eyelids, short fingers, webbed fingers.
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.
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.
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."
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.