Kaufman oculocerebrofacial syndrome

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


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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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Medical Term Other Names Description
Hypertelorism Increased distance between eye sockets, Increased distance between eyes, Increased interpupillary distance, Widely spaced eyes, Excessive orbital separation, Widened interpupillary distance, Ocular hypertelorism, Wide-set eyes [more] Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Low-set ears Melotia, Lowset ears 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 small cranium, Decreased circumference of cranium, Small head, Small skull, Small head circumference, Reduced head circumference, Decreased size of cranium, Decreased size of skull, Abnormally small skull, Decreased size of head, Abnormally small cranium, small calvarium, Abnormally small head [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 Abnormally small globe of eye, Microphthalmos, Decreased size of eyeball, Nanophthalmos, Abnormally small eyeball, Decreased size of globe of eye [more] A developmental anomaly characterized by abnormal smallness of one or both eyes.
Abnormal heart morphology Congenital heart defects, Abnormally shaped heart, Cardiac anomalies, Abnormality of cardiac morphology, Abnormality of the heart [more] Any structural anomaly of the heart.
Anteverted nares Upturned nasal tip, Upturned nostrils, Upturned nares, Anteverted nose, Upturned nose, Nostrils anteverted [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 Acrochorda 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 Optic-nerve degeneration, Optic nerve atrophy 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 Decreased body height, Height less than 3rd percentile, Small stature, Stature below 3rd percentile [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 Drooping upper eyelid, Eye drop, Blepharoptosis, Eyelid ptosis [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 Nonprogressive intellectual disability, Poor school performance, Mental-retardation, Dull intelligence, Nonprogressive mental retardation, Mental deficiency, Mental retardation, nonspecific, Low intelligence [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 Inverted eyelid, Eyelid folded in, Eyelid turned in [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 Decreased width of palpebral fissure, Narrow opening between the eyelids A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
Microcornea Decreased corneal diameter 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 Metatarsus adductovarsus, Metatarsus varus, Forefoot varus, Intoe [more] 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 Generalized muscular hypotonia, Decreased muscle tone, Low muscle tone, Hypotonia [more] Generalized muscular hypotonia (abnormally low muscle tone).
Hypermetropia Farsightedness, Hyperopia, Long-sightedness [more] An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.
Strabismus Squint, Heterotropia, Cross-eyed, Squint eyes [more] Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other.
Respiratory distress Respiratory difficulties, Shortness of breath, Short of breath, Difficulty breathing, Breathing difficulties [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 Mongoloid slant, Upward slanting palpebral fissures, Upslanting palpebral fissures, Upward slanting of the opening between the eyelids, Upward slanted palpebral fissures [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 Epicanthic folds, Prominent eye folds, Palpebronasal fold, Plica palpebronasalis, Epicanthal folds, Eye folds [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 Abnormal shape of brain, Abnormality of the brain A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain.
High, narrow palate Narrow and high arched palate, High arched palate, Narrow, high-arched roof of mouth, Narrow, highly arched palate, Gothic palate, High vaulted palate, Narrow, highly arched roof of mouth [more] The presence of a high and narrow palate.
Hearing impairment Congenital deafness, Hypoacusis, Deafness, Hearing defect, Hearing loss, Congenital hearing loss [more] A decreased magnitude of the sensory perception of sound.
Myopia Near sightedness, Close sighted, Nearsightedness, Near sighted [more] An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.
Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual development, Delayed milestones, Psychomotor development deficiency, Developmental retardation, Motor and developmental delay, Developmental delay in early childhood, Retarded psychomotor development, Retarded mental development, Delayed cognitive development, Retarded development, Delayed developmental milestones, Delayed development, Psychomotor development failure, Mental and motor retardation, Psychomotor delay, Delayed psychomotor development [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 Dystopia canthorum, Increased distance between medial canthi, Increased intercanthal distance, Corners of eye widely separated [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 Skin tag on the posterior cheek, Preauricular acrochordon, Periauricular skin tag, Skin tag in front of the ear, Preauricular tags, Preauricular fibroepithelial polyp [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 Lower jaw hypoplasia, Mandibular deficiency, Retrusion of lower jaw, Hypoplastic mandible condyle, Small mandible, Decreased projection of lower jaw, Micrognathia of lower jaw, Mandibular retrognathia, Mandibular retrusion, Decreased size of lower jaw, Micromandible, Underdevelopment of lower jaw, Hypotrophic mandible, Hypotrophic lower jaw, Robin mandible, Little mandible, Underdevelopment of mandible, Small jaw, Decreased size of mandible, Hypoplastic mandible, Little lower jaw, Decreased projection of mandible, Mandibular micrognathia, Lower jaw retrognathia [more] Developmental hypoplasia of the mandible.
Highly arched eyebrow Thick, flared eyebrows, Bowed and upward slanting eyebrows, High arched eyebrows, Arched eyebrows, High, rounded eyebrows, Broad, arched eyebrows [more] Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.
Ambiguous genitalia Ambiguous external genitalia, Intersex genitalia, Ambiguous external genitalia at birth [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 Underdeveloped optic nerves, Hypoplastic optic nerves Underdevelopment of the optic nerve.
Narrow mouth Microstomia, Small oral aperture, Small mouth [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 Ocular colobomas, Notched pupil A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa.

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