Wiedemann-Steiner syndrome

Also known as: Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome



Wiedemann-Steiner syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long philtrum), developmental delay, and mild to moderate intellectual disability. It has a variable clinical phenotype with additional manifestations reported including muscular hypotonia, patent ductus arteriosus, small hands and feet, hypertrichosis on the back, behavioral difficulties, and seizures.

Go To Source: Orphanet


Medical Term Other Names Description
Seizures Epilepsy Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures.
Elbow hypertrichosis Hairy elbow, Hypertrichosis cubiti Excessive, increased hair growth located in the elbow region.
Muscular hypotonia Muscle hypotonia, Low or weak muscle tone Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.
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).
Generalized hypotonia Generalized muscular hypotonia, Decreased muscle tone, Low muscle tone, Hypotonia [more] Generalized muscular hypotonia (abnormally low muscle tone).
Long philtrum Elongated philtrum, Vertical hyperplasia of philtrum, Increased height of philtrum, Increased length of philtrum, Increased vertical dimension of philtrum [more] Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Thick eyebrow Dense eyebrow, Hypertrichosis of the eyebrow, Prominent eyebrows, Heavy eyebrows, Bushy eyebrows [more] Increased density/number and/or increased diameter of eyebrow hairs.
Broad nasal tip Broad tip of nose, Increased width of nasal tip, Nasal tip, wide, Increased width of tip of nose, Broad upturned nose, Increased breadth of tip of nose, Increased breadth of nasal tip, Wide tip of nose [more] Increase in width of the nasal tip.
Hypertrichosis Excessive hair growth Hypertrichosis is increased hair growth that is abnormal in quantity or location.
Wide nasal bridge Wide bridge of nose, Increased breadth of nasal bridge, Broad nasal root, Increased breadth of bridge of nose, Broad nasal bridge, Widened nasal bridge, Broad flat nasal bridge, Increased width of nasal bridge, Increased width of bridge of nose, Broadened nasal bridge [more] Increased breadth of the nasal bridge (and with it, the nasal root).
Small hand Disproportionately small hands Disproportionately small hand.
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.
Patent ductus arteriosus Ductus arteriosus, Persistent ductus arteriosus, Persistent arterial duct [more] In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Long eyelashes Unusually long eyelashes, Increased length of eyelashes, Ciliary trichomegaly [more] Mid upper eyelash length >10 mm or increased length of the eyelashes (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.
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).
Long palpebral fissure Wide palpebral fissures, Broad palpebral fissure, Long opening between the eyelids, Wide opening between the eyelids, Broad opening between the eyelids [more] Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures.
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.

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