Epiphyseal dysplasia-hearing loss-dysmorphism syndrome

Also known as: Finucane-Kurtz-Scott syndrome

Definition

Orphanet

Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (incl. epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (incl. abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992.

Go To Source: Orphanet

Symptoms

Medical Term Other Names Description
Abnormal facial shape Dysmorphic facial features, Facial Dysmorphism, Deformity of face, Distortion of face, Unusual facial appearance, Funny looking face, Dysmorphic facies, Unusual facies, Malformation of face, Abnormal morphology of the face, Distinctive facies [more] An abnormal morphology (form) of the face or its components.
Wide mouth Macrostomia, Large mouth, Broad mouth, Large oral aperture [more] Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).
Prominent nasolabial fold Deep nasolabial crease, Deep smile lines, Deep nasolabial fold, Nasolabial crease, prominent, Prominent laugh lines, Prominent smile lines, Prominent nasolabial groove, Deep nasolabial groove, Deep laugh lines [more] Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure).
Sensorineural hearing impairment Hearing loss, sensorineural, Sensorineural deafness [more] A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
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).
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).
Thin upper lip vermilion Thin vermilion border of upper lip, Thin upper lips, Thin red part of the upper lip, Decreased volume of upper lip vermilion, Decreased volume of upper lip, Decreased height of upper lip vermilion [more] Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).
Abnormality of the skeletal system Skeletal anomalies An abnormality of the skeletal system.
Depressivity Depression, Depressive disorder Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior.
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.
Hyperactivity Hyperactive behavior
Epiphyseal dysplasia Abnormal development of end part of bone
Short finger Stubby fingers, Hypoplastic digits, Hypoplastic fingers, Hypoplastic/small fingers [more] Abnormally short finger associated with developmental hypoplasia.
Scoliosis Curved spine, Abnormal curving of the spine, Curvature of spine [more] The presence of an abnormal lateral curvature of the spine.
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.
Hearing impairment Congenital deafness, Hypoacusis, Deafness, Hearing defect, Hearing loss, Congenital hearing loss [more] A decreased magnitude of the sensory perception of sound.
Hypopigmentation of the skin Patchy lightened skin, Hypopigmentation, Skin hypopigmentation, Hypopigmented skin [more] A reduction of skin color related to a decrease in melanin production and deposition.
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.
Short thumb Hypoplastic thumb, Thumb brachydactyly, Small thumbs, Hypoplastic/small thumb [more] Hypoplasia (congenital reduction in size) of the thumb.
Depressed nasal bridge Concave nasal bridge, Low nasal root, Retruded bridge of nose, Flat nasal bridge, Concave bridge of nose, Retruded nasal bridge, Flat bridge of nose, Depressed bridge of nose, Depressed nasal root/bridge, Depressed nasal root, Flat nasal root, Low nasal bridge, Flattened nasal bridge [more] Posterior positioning of the nasal root in relation to the overall facial profile for age.
Brachydactyly Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Aggressive behavior Aggressiveness, Aggressive behaviour, physical aggression, Aggression [more] Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself.

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