Hallermann-Streiff syndrome

Also known as: Fran├žois dyscephalic syndrome, Oculomandibulofacial syndrome

Definition

Orphanet

Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases.

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Symptoms

Medical Term Other Names Description
Hypoplasia of dental enamel Defective enamel matrix, Enamel hypoplasia, Dysplasia of tooth enamel, Thin dental enamel, Thin tooth enamel [more] Developmental hypoplasia of the dental enamel.
Brachycephaly Broad cranium shape, Broad skull shape, Wide head shape, Wide cranium shape, Wide skull shape, Broad head shape [more] An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
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.
Congenital cataract Congenital cataracts, bilateral, Cataracts, lenticular, bilateral, Bilateral cataracts [more] A congenital cataract.
Agenesis of permanent teeth Missing teeth, Failure of development of permanent teeth, Agenesis of permanent dentition, Absence of permanent teeth, Agenesis of secondary dentition, Failure of development of secondary teeth, Absent permanent teeth [more] A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth.
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.
Frontal bossing Skull bossing, Frontal protruberance Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Bird-like facies Bird-like facial appearance
Abnormality of the face Abnormality of the physiognomy, Abnormal face, Facial anomaly, Abnormality of the visage, Facial abnormality, Anomaly of the face, Anomaly of face, Disorder of face, Disorder of the face, Abnormality of the countenance [more] An abnormality of the face.
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).
Cataract Lens opacities, Lens opacity, Cloudy lens [more] A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
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).
Nystagmus Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Increased number of teeth Supplemental dentition, Supernumerary teeth, Increased tooth count, Extra teeth, Supernumerary tooth, Supplemental teeth, Supernumary dentition, Supernumary teeth, More teeth than normal, Hyperdontia [more] The presence of a supernumerary, i.e., extra, tooth or teeth.
Hypotrichosis Marked hypotrichosis, Hypotrichosis, infantile, Congenital hypotrichosis [more] Congenital lack of hair growth.
Natal tooth Neonatal teeth, Natal teeth, Born with teeth, Teeth present at birth [more] Erupted tooth or teeth at birth.
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.
Proportionate short stature Proportionate small stature A kind of short stature in which different regions of the body are shortened to a comparable extent.
Telangiectasia Cutaneous telangiectasia, Spider veins, Telangiectases [more] Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips.
Retrognathia Receding mandible, Weak jaw, Receding chin, Weak chin, Retrogenia, Retrognathia of lower jaw, Receding lower jaw [more] An abnormality in which the mandible is mislocalised posteriorly.

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