Kaufman oculocerebrofacial syndrome

Also known as: blepharophimosis-ptosis-intellectual disability syndrome; BPIDS; KOS; oculocerebrofacial syndrome, Kaufman type

Definition

Genetics Home Reference

Kaufman oculocerebrofacial syndrome is a disorder characterized by eye problems (oculo-), intellectual disability (-cerebro-), and a distinctive pattern of facial features (-facial).

Most individuals with Kaufman oculocerebrofacial syndrome have an unusually small head size (microcephaly), and some have structural abnormalities of the brain. Affected individuals have weak muscle tone (hypotonia), and are delayed in developing motor skills such as walking. Intellectual disability is severe or profound. Most affected individuals never acquire the ability to speak.

Eye abnormalities and their effect on vision vary among people with Kaufman oculocerebrofacial syndrome. Some people with this disorder have abnormally small or poorly developed eyes (microphthalmia); microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved; missing pieces of tissue in structures that form the eye (coloboma); or underdevelopment of the nerves that carry signals between the eyes and the brain (optic nerve hypoplasia). Eyes that do not look in the same direction (strabismus), nearsightedness (myopia) or farsightedness (hyperopia), or an inward turning of the lower eyelid (entropion) can also occur.

Individuals with Kaufman oculocerebrofacial syndrome typically have a characteristic pattern of facial features. These include highly arched eyebrows, an increased distance between the inner corners of the eyes (telecanthus), a narrowing of the eye opening (blepharophimosis), skin folds covering the inner corner of the eyes (epicanthal folds), droopy eyelids (ptosis), and outside corners of the eyes that point upward (upslanting palpebral fissures). Ear abnormalities include low-set ears with small lobes and growths of skin (skin tags) in front of the ear (preauricular tags). The nose has a narrow bridge, a wide base, and nostrils that open to the front rather than downward (anteverted nares). Affected individuals may also have flat cheeks; a space between the nose and upper lip (philtrum) that is unusually long and smooth; a narrow mouth; and an unusually small jaw (micrognathia).

Other signs and symptoms that can occur in people with this disorder include short stature; hearing loss; and abnormalities of the heart, respiratory tract, gastrointestinal tract, kidneys, genitals, or skeleton. Affected individuals can live into adulthood; however, their average life expectancy is unknown because of the small number of people who have been diagnosed with this disorder.

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Oculocerebrofacial syndrome, Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. It has been described in about 10 cases. Other anomalies can be present: long thin hands and feet, ambiguous genitalia, hypertelorism, etc. An autosomal recessive mode of inheritance seems most likely.

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Symptoms

Medical Term Other Names Description
Hypertelorism I,
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W,
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Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Low-set ears M,
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Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Microcephaly s,
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[more]
Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Microphthalmia A,
b,
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N,
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A,
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f,
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g,
l,
o,
b,
e,
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o,
f,
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e,
y,
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[more]
A developmental anomaly characterized by abnormal smallness of one or both eyes.
Abnormal heart morphology C,
o,
n,
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A,
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,
C,
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Any structural anomaly of the heart.
Anteverted nares U,
p,
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d,
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N,
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l,
s,
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a,
n,
t,
e,
v,
e,
r,
t,
e,
d
[more]
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Skin tags A,
c,
r,
o,
c,
h,
o,
r,
d,
a
[more]
Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumours that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region.
Optic atrophy O,
p,
t,
i,
c,
-,
n,
e,
r,
v,
e,
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d,
e,
g,
e,
n,
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,
O,
p,
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c,
,
n,
e,
r,
v,
e,
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a,
t,
r,
o,
p,
h,
y
[more]
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
Short stature D,
e,
c,
r,
e,
a,
s,
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d,
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b,
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d,
y,
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h,
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,
H,
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3,
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3,
r,
d,
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p,
e,
r,
c,
e,
n,
t,
i,
l,
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[more]
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Ptosis D,
r,
o,
o,
p,
i,
n,
g,
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u,
p,
p,
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r,
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E,
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B,
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,
E,
y,
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l,
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d,
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p,
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s,
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s
[more]
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Intellectual disability N,
o,
n,
p,
r,
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s,
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l,
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g,
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n,
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[more]
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Entropion I,
n,
v,
e,
r,
t,
e,
d,
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l,
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,
E,
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E,
y,
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l,
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d,
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t,
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r,
n,
e,
d,
,
i,
n
[more]
An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital.
Blepharophimosis D,
e,
c,
r,
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a,
s,
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d,
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w,
i,
d,
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h,
,
o,
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e,
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n,
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t,
h,
e,
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e,
y,
e,
l,
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d,
s
[more]
A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
Microcornea D,
e,
c,
r,
e,
a,
s,
e,
d,
,
c,
o,
r,
n,
e,
a,
l,
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d,
i,
a,
m,
e,
t,
e,
r
[more]
A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.
Metatarsus adductus M,
e,
t,
a,
t,
a,
r,
s,
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M,
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,
F,
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,
I,
n,
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The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.
Generalized hypotonia G,
e,
n,
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a,
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D,
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,
H,
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p,
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Generalized muscular hypotonia (abnormally low muscle tone).
Hypermetropia F,
a,
r,
s,
i,
g,
h,
t,
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d,
n,
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,,
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e,
d,
n,
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[more]
An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.
Strabismus S,
q,
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n,
t,
,,
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H,
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e,
y,
e,
s
[more]
Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other.
Respiratory distress R,
e,
s,
p,
i,
r,
a,
t,
o,
r,
y,
,
d,
i,
f,
f,
i,
c,
u,
l,
t,
i,
e,
s,
,,
,
S,
h,
o,
r,
t,
n,
e,
s,
s,
,
o,
f,
,
b,
r,
e,
a,
t,
h,
,,
,
S,
h,
o,
r,
t,
,
o,
f,
,
b,
r,
e,
a,
t,
h,
,,
,
D,
i,
f,
f,
i,
c,
u,
l,
t,
y,
,
b,
r,
e,
a,
t,
h,
i,
n,
g,
,,
,
B,
r,
e,
a,
t,
h,
i,
n,
g,
,
d,
i,
f,
f,
i,
c,
u,
l,
t,
i,
e,
s
[more]
Difficulty in breathing. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.
Upslanted palpebral fissure M,
o,
n,
g,
o,
l,
o,
i,
d,
,
s,
l,
a,
n,
t,
,,
,
U,
p,
w,
a,
r,
d,
,
s,
l,
a,
n,
t,
i,
n,
g,
,
p,
a,
l,
p,
e,
b,
r,
a,
l,
,
f,
i,
s,
s,
u,
r,
e,
s,
,,
,
U,
p,
s,
l,
a,
n,
t,
i,
n,
g,
,
p,
a,
l,
p,
e,
b,
r,
a,
l,
,
f,
i,
s,
s,
u,
r,
e,
s,
,,
,
U,
p,
w,
a,
r,
d,
,
s,
l,
a,
n,
t,
i,
n,
g,
,
o,
f,
,
t,
h,
e,
,
o,
p,
e,
n,
i,
n,
g,
,
b,
e,
t,
w,
e,
e,
n,
,
t,
h,
e,
,
e,
y,
e,
l,
i,
d,
s,
,,
,
U,
p,
w,
a,
r,
d,
,
s,
l,
a,
n,
t,
e,
d,
,
p,
a,
l,
p,
e,
b,
r,
a,
l,
,
f,
i,
s,
s,
u,
r,
e,
s
[more]
The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
Epicanthus E,
p,
i,
c,
a,
n,
t,
h,
i,
c,
,
f,
o,
l,
d,
s,
,,
,
P,
r,
o,
m,
i,
n,
e,
n,
t,
,
e,
y,
e,
,
f,
o,
l,
d,
s,
,,
,
P,
a,
l,
p,
e,
b,
r,
o,
n,
a,
s,
a,
l,
,
f,
o,
l,
d,
,,
,
P,
l,
i,
c,
a,
,
p,
a,
l,
p,
e,
b,
r,
o,
n,
a,
s,
a,
l,
i,
s,
,,
,
E,
p,
i,
c,
a,
n,
t,
h,
a,
l,
,
f,
o,
l,
d,
s,
,,
,
E,
y,
e,
,
f,
o,
l,
d,
s
[more]
A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.
Abnormality of brain morphology A,
b,
n,
o,
r,
m,
a,
l,
,
s,
h,
a,
p,
e,
,
o,
f,
,
b,
r,
a,
i,
n,
,,
,
A,
b,
n,
o,
r,
m,
a,
l,
i,
t,
y,
,
o,
f,
,
t,
h,
e,
,
b,
r,
a,
i,
n
[more]
A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain.
High, narrow palate N,
a,
r,
r,
o,
w,
,
a,
n,
d,
,
h,
i,
g,
h,
,
a,
r,
c,
h,
e,
d,
,
p,
a,
l,
a,
t,
e,
,,
,
H,
i,
g,
h,
,
a,
r,
c,
h,
e,
d,
,
p,
a,
l,
a,
t,
e,
,,
,
N,
a,
r,
r,
o,
w,
,,
,
h,
i,
g,
h,
-,
a,
r,
c,
h,
e,
d,
,
r,
o,
o,
f,
,
o,
f,
,
m,
o,
u,
t,
h,
,,
,
N,
a,
r,
r,
o,
w,
,,
,
h,
i,
g,
h,
l,
y,
,
a,
r,
c,
h,
e,
d,
,
p,
a,
l,
a,
t,
e,
,,
,
G,
o,
t,
h,
i,
c,
,
p,
a,
l,
a,
t,
e,
,,
,
H,
i,
g,
h,
,
v,
a,
u,
l,
t,
e,
d,
,
p,
a,
l,
a,
t,
e,
,,
,
N,
a,
r,
r,
o,
w,
,,
,
h,
i,
g,
h,
l,
y,
,
a,
r,
c,
h,
e,
d,
,
r,
o,
o,
f,
,
o,
f,
,
m,
o,
u,
t,
h
[more]
The presence of a high and narrow palate.
Hearing impairment C,
o,
n,
g,
e,
n,
i,
t,
a,
l,
,
d,
e,
a,
f,
n,
e,
s,
s,
,,
,
H,
y,
p,
o,
a,
c,
u,
s,
i,
s,
,,
,
D,
e,
a,
f,
n,
e,
s,
s,
,,
,
H,
e,
a,
r,
i,
n,
g,
,
d,
e,
f,
e,
c,
t,
,,
,
H,
e,
a,
r,
i,
n,
g,
,
l,
o,
s,
s,
,,
,
C,
o,
n,
g,
e,
n,
i,
t,
a,
l,
,
h,
e,
a,
r,
i,
n,
g,
,
l,
o,
s,
s
[more]
A decreased magnitude of the sensory perception of sound.
Myopia N,
e,
a,
r,
,
s,
i,
g,
h,
t,
e,
d,
n,
e,
s,
s,
,,
,
C,
l,
o,
s,
e,
,
s,
i,
g,
h,
t,
e,
d,
,,
,
N,
e,
a,
r,
s,
i,
g,
h,
t,
e,
d,
n,
e,
s,
s,
,,
,
N,
e,
a,
r,
,
s,
i,
g,
h,
t,
e,
d
[more]
An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.
Global developmental delay P,
s,
y,
c,
h,
o,
m,
o,
t,
o,
r,
,
d,
e,
v,
e,
l,
o,
p,
m,
e,
n,
t,
a,
l,
,
d,
e,
l,
a,
y,
,,
,
P,
s,
y,
c,
h,
o,
m,
o,
t,
o,
r,
,
r,
e,
t,
a,
r,
d,
a,
t,
i,
o,
n,
,,
,
D,
e,
v,
e,
l,
o,
p,
m,
e,
n,
t,
a,
l,
,
d,
e,
l,
a,
y,
,,
,
L,
a,
c,
k,
,
o,
f,
,
p,
s,
y,
c,
h,
o,
m,
o,
t,
o,
r,
,
d,
e,
v,
e,
l,
o,
p,
m,
e,
n,
t,
,,
,
C,
o,
g,
n,
i,
t,
i,
v,
e,
,
d,
e,
l,
a,
y,
,,
,
D,
e,
l,
a,
y,
e,
d,
,
i,
n,
t,
e,
l,
l,
e,
c,
t,
u,
a,
l,
,
d,
e,
v,
e,
l,
o,
p,
m,
e,
n,
t,
,,
,
D,
e,
l,
a,
y,
e,
d,
,
m,
i,
l,
e,
s,
t,
o,
n,
e,
s,
,,
,
P,
s,
y,
c,
h,
o,
m,
o,
t,
o,
r,
,
d,
e,
v,
e,
l,
o,
p,
m,
e,
n,
t,
,
d,
e,
f,
i,
c,
i,
e,
n,
c,
y,
,,
,
D,
e,
v,
e,
l,
o,
p,
m,
e,
n,
t,
a,
l,
,
r,
e,
t,
a,
r,
d,
a,
t,
i,
o,
n,
,,
,
M,
o,
t,
o,
r,
,
a,
n,
d,
,
d,
e,
v,
e,
l,
o,
p,
m,
e,
n,
t,
a,
l,
,
d,
e,
l,
a,
y,
,,
,
D,
e,
v,
e,
l,
o,
p,
m,
e,
n,
t,
a,
l,
,
d,
e,
l,
a,
y,
,
i,
n,
,
e,
a,
r,
l,
y,
,
c,
h,
i,
l,
d,
h,
o,
o,
d,
,,
,
R,
e,
t,
a,
r,
d,
e,
d,
,
p,
s,
y,
c,
h,
o,
m,
o,
t,
o,
r,
,
d,
e,
v,
e,
l,
o,
p,
m,
e,
n,
t,
,,
,
R,
e,
t,
a,
r,
d,
e,
d,
,
m,
e,
n,
t,
a,
l,
,
d,
e,
v,
e,
l,
o,
p,
m,
e,
n,
t,
,,
,
D,
e,
l,
a,
y,
e,
d,
,
c,
o,
g,
n,
i,
t,
i,
v,
e,
,
d,
e,
v,
e,
l,
o,
p,
m,
e,
n,
t,
,,
,
R,
e,
t,
a,
r,
d,
e,
d,
,
d,
e,
v,
e,
l,
o,
p,
m,
e,
n,
t,
,,
,
D,
e,
l,
a,
y,
e,
d,
,
d,
e,
v,
e,
l,
o,
p,
m,
e,
n,
t,
a,
l,
,
m,
i,
l,
e,
s,
t,
o,
n,
e,
s,
,,
,
D,
e,
l,
a,
y,
e,
d,
,
d,
e,
v,
e,
l,
o,
p,
m,
e,
n,
t,
,,
,
P,
s,
y,
c,
h,
o,
m,
o,
t,
o,
r,
,
d,
e,
v,
e,
l,
o,
p,
m,
e,
n,
t,
,
f,
a,
i,
l,
u,
r,
e,
,,
,
M,
e,
n,
t,
a,
l,
,
a,
n,
d,
,
m,
o,
t,
o,
r,
,
r,
e,
t,
a,
r,
d,
a,
t,
i,
o,
n,
,,
,
P,
s,
y,
c,
h,
o,
m,
o,
t,
o,
r,
,
d,
e,
l,
a,
y,
,,
,
D,
e,
l,
a,
y,
e,
d,
,
p,
s,
y,
c,
h,
o,
m,
o,
t,
o,
r,
,
d,
e,
v,
e,
l,
o,
p,
m,
e,
n,
t
[more]
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Telecanthus D,
y,
s,
t,
o,
p,
i,
a,
,
c,
a,
n,
t,
h,
o,
r,
u,
m,
,,
,
I,
n,
c,
r,
e,
a,
s,
e,
d,
,
d,
i,
s,
t,
a,
n,
c,
e,
,
b,
e,
t,
w,
e,
e,
n,
,
m,
e,
d,
i,
a,
l,
,
c,
a,
n,
t,
h,
i,
,,
,
I,
n,
c,
r,
e,
a,
s,
e,
d,
,
i,
n,
t,
e,
r,
c,
a,
n,
t,
h,
a,
l,
,
d,
i,
s,
t,
a,
n,
c,
e,
,,
,
C,
o,
r,
n,
e,
r,
s,
,
o,
f,
,
e,
y,
e,
,
w,
i,
d,
e,
l,
y,
,
s,
e,
p,
a,
r,
a,
t,
e,
d
[more]
Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
Preauricular skin tag S,
k,
i,
n,
,
t,
a,
g,
,
o,
n,
,
t,
h,
e,
,
p,
o,
s,
t,
e,
r,
i,
o,
r,
,
c,
h,
e,
e,
k,
,,
,
P,
r,
e,
a,
u,
r,
i,
c,
u,
l,
a,
r,
,
a,
c,
r,
o,
c,
h,
o,
r,
d,
o,
n,
,,
,
P,
e,
r,
i,
a,
u,
r,
i,
c,
u,
l,
a,
r,
,
s,
k,
i,
n,
,
t,
a,
g,
,,
,
S,
k,
i,
n,
,
t,
a,
g,
,
i,
n,
,
f,
r,
o,
n,
t,
,
o,
f,
,
t,
h,
e,
,
e,
a,
r,
,,
,
P,
r,
e,
a,
u,
r,
i,
c,
u,
l,
a,
r,
,
t,
a,
g,
s,
,,
,
P,
r,
e,
a,
u,
r,
i,
c,
u,
l,
a,
r,
,
f,
i,
b,
r,
o,
e,
p,
i,
t,
h,
e,
l,
i,
a,
l,
,
p,
o,
l,
y,
p
[more]
A rudimentary tag of sking often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).
Micrognathia L,
o,
w,
e,
r,
,
j,
a,
w,
,
h,
y,
p,
o,
p,
l,
a,
s,
i,
a,
,,
,
M,
a,
n,
d,
i,
b,
u,
l,
a,
r,
,
d,
e,
f,
i,
c,
i,
e,
n,
c,
y,
,,
,
R,
e,
t,
r,
u,
s,
i,
o,
n,
,
o,
f,
,
l,
o,
w,
e,
r,
,
j,
a,
w,
,,
,
H,
y,
p,
o,
p,
l,
a,
s,
t,
i,
c,
,
m,
a,
n,
d,
i,
b,
l,
e,
,
c,
o,
n,
d,
y,
l,
e,
,,
,
S,
m,
a,
l,
l,
,
m,
a,
n,
d,
i,
b,
l,
e,
,,
,
D,
e,
c,
r,
e,
a,
s,
e,
d,
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p,
r,
o,
j,
e,
c,
t,
i,
o,
n,
,
o,
f,
,
l,
o,
w,
e,
r,
,
j,
a,
w,
,,
,
M,
i,
c,
r,
o,
g,
n,
a,
t,
h,
i,
a,
,
o,
f,
,
l,
o,
w,
e,
r,
,
j,
a,
w,
,,
,
M,
a,
n,
d,
i,
b,
u,
l,
a,
r,
,
r,
e,
t,
r,
o,
g,
n,
a,
t,
h,
i,
a,
,,
,
M,
a,
n,
d,
i,
b,
u,
l,
a,
r,
,
r,
e,
t,
r,
u,
s,
i,
o,
n,
,,
,
D,
e,
c,
r,
e,
a,
s,
e,
d,
,
s,
i,
z,
e,
,
o,
f,
,
l,
o,
w,
e,
r,
,
j,
a,
w,
,,
,
M,
i,
c,
r,
o,
m,
a,
n,
d,
i,
b,
l,
e,
,,
,
U,
n,
d,
e,
r,
d,
e,
v,
e,
l,
o,
p,
m,
e,
n,
t,
,
o,
f,
,
l,
o,
w,
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r,
,
j,
a,
w,
,,
,
H,
y,
p,
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t,
r,
o,
p,
h,
i,
c,
,
m,
a,
n,
d,
i,
b,
l,
e,
,,
,
H,
y,
p,
o,
t,
r,
o,
p,
h,
i,
c,
,
l,
o,
w,
e,
r,
,
j,
a,
w,
,,
,
R,
o,
b,
i,
n,
,
m,
a,
n,
d,
i,
b,
l,
e,
,,
,
L,
i,
t,
t,
l,
e,
,
m,
a,
n,
d,
i,
b,
l,
e,
,,
,
U,
n,
d,
e,
r,
d,
e,
v,
e,
l,
o,
p,
m,
e,
n,
t,
,
o,
f,
,
m,
a,
n,
d,
i,
b,
l,
e,
,,
,
S,
m,
a,
l,
l,
,
j,
a,
w,
,,
,
D,
e,
c,
r,
e,
a,
s,
e,
d,
,
s,
i,
z,
e,
,
o,
f,
,
m,
a,
n,
d,
i,
b,
l,
e,
,,
,
H,
y,
p,
o,
p,
l,
a,
s,
t,
i,
c,
,
m,
a,
n,
d,
i,
b,
l,
e,
,,
,
L,
i,
t,
t,
l,
e,
,
l,
o,
w,
e,
r,
,
j,
a,
w,
,,
,
D,
e,
c,
r,
e,
a,
s,
e,
d,
,
p,
r,
o,
j,
e,
c,
t,
i,
o,
n,
,
o,
f,
,
m,
a,
n,
d,
i,
b,
l,
e,
,,
,
M,
a,
n,
d,
i,
b,
u,
l,
a,
r,
,
m,
i,
c,
r,
o,
g,
n,
a,
t,
h,
i,
a,
,,
,
L,
o,
w,
e,
r,
,
j,
a,
w,
,
r,
e,
t,
r,
o,
g,
n,
a,
t,
h,
i,
a
[more]
Developmental hypoplasia of the mandible.
Highly arched eyebrow T,
h,
i,
c,
k,
,,
,
f,
l,
a,
r,
e,
d,
,
e,
y,
e,
b,
r,
o,
w,
s,
,,
,
B,
o,
w,
e,
d,
,
a,
n,
d,
,
u,
p,
w,
a,
r,
d,
,
s,
l,
a,
n,
t,
i,
n,
g,
,
e,
y,
e,
b,
r,
o,
w,
s,
,,
,
H,
i,
g,
h,
,
a,
r,
c,
h,
e,
d,
,
e,
y,
e,
b,
r,
o,
w,
s,
,,
,
A,
r,
c,
h,
e,
d,
,
e,
y,
e,
b,
r,
o,
w,
s,
,,
,
H,
i,
g,
h,
,,
,
r,
o,
u,
n,
d,
e,
d,
,
e,
y,
e,
b,
r,
o,
w,
s,
,,
,
B,
r,
o,
a,
d,
,,
,
a,
r,
c,
h,
e,
d,
,
e,
y,
e,
b,
r,
o,
w,
s
[more]
Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.
Ambiguous genitalia A,
m,
b,
i,
g,
u,
o,
u,
s,
,
e,
x,
t,
e,
r,
n,
a,
l,
,
g,
e,
n,
i,
t,
a,
l,
i,
a,
,,
,
I,
n,
t,
e,
r,
s,
e,
x,
,
g,
e,
n,
i,
t,
a,
l,
i,
a,
,,
,
A,
m,
b,
i,
g,
u,
o,
u,
s,
,
e,
x,
t,
e,
r,
n,
a,
l,
,
g,
e,
n,
i,
t,
a,
l,
i,
a,
,
a,
t,
,
b,
i,
r,
t,
h
[more]
A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4.
Optic nerve hypoplasia U,
n,
d,
e,
r,
d,
e,
v,
e,
l,
o,
p,
e,
d,
,
o,
p,
t,
i,
c,
,
n,
e,
r,
v,
e,
s,
,,
,
H,
y,
p,
o,
p,
l,
a,
s,
t,
i,
c,
,
o,
p,
t,
i,
c,
,
n,
e,
r,
v,
e,
s
[more]
Underdevelopment of the optic nerve.
Narrow mouth M,
i,
c,
r,
o,
s,
t,
o,
m,
i,
a,
,,
,
S,
m,
a,
l,
l,
,
o,
r,
a,
l,
,
a,
p,
e,
r,
t,
u,
r,
e,
,,
,
S,
m,
a,
l,
l,
,
m,
o,
u,
t,
h
[more]
Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
Coloboma O,
c,
u,
l,
a,
r,
,
c,
o,
l,
o,
b,
o,
m,
a,
s,
,,
,
N,
o,
t,
c,
h,
e,
d,
,
p,
u,
p,
i,
l
[more]
A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa.

Other Classifiers and IDs