Patients show bird-like facies, dental abnormalities, and hypotrichosis with various ophthalmic abnormalities.
[ncbi.nlm.nih.gov]
[…] and those of the lower jaw (malocclusion), and/or persistence of the primary (deciduous) teeth.
[rarediseases.org]
Hallermann-Streiff syndrome is a rare congenital disorder characterized by bird-like facies and dental anomalies.
[ncbi.nlm.nih.gov]
Hypoplasia of the musculature Hypertension Hyperglycemia Wormian bones Acanthosis nigricans Calcinosis Dermal atrophy Hyperlipidemia Hyperinsulinemia Lipodystrophy Brittle hair Bird-like
[mendelian.co]
Supravalvar aortic stenosis ... short nose, full nasal tip, malar hypoplasia ... full lips ... malocclusion, small jaw ... earlobes ... full cheeks and small, widely spaced
[ibis-birthdefects.org]
facies Short chin Loss of subcutaneous adipose tissue in limbs Generalized lipodystrophy Aplasia/Hypoplasia of the clavicles Poor wound healing Glucose intolerance Delayed
[mendelian.co]
[…] most severe of the conditions associated with mutations in the insulin-receptor gene, is characterized additionally by intrauterine growth retardation, a characteristic bird-like
[oncohemakey.com]
Werner’s syndrome, a progeria syndrome, presents with bird-like facies, gray hair, cataract formation, slender extremities, and severe insulin resistance ( 16 ).
[academic.oup.com]
Pseudoacromegaly Pseudoacromegaly, including frontal bossing, prominence of the jaw and malocclusion of the teeth, macroglossia, increased hand and foot size, skin tags, increased
[oncohemakey.com]
Due to the discrepancy between the size of the jaws and the teeth, malocclusion and crowding are frequent.
[ojrd.biomedcentral.com]
[…] photosensitivity, (4) progressive ocular abnormalities (pigmentary retinopathy, cataract), (5) hearing loss, (6) dental caries, (7) characteristic wizened facial appearance: bird-like
[latunisiemedicale.com]
[…] oculomandibulofacial syndrome principally characterized by hypotrichosis, microphthalmia (small eyes dis-order), mandibular hypoplasia, dyscephaly (usually brachycephaly), bird-like
[wellnessadvocate.com]
the patient may suffer malocclusion and macrostomia.
[parjournal.net]
facies (parrot nose), proportionate nanism, and bilateral congenital cataracts. [14824] References: Tartaglia M. et al "Jackson-Weiss syndrome: identification of two novel
[wellnessadvocate.com]
[…] most severe of the conditions associated with mutations in the insulin-receptor gene, is characterized additionally by intrauterine growth retardation, a characteristic bird-like
[oncohemakey.com]
Werner’s syndrome, a progeria syndrome, presents with bird-like facies, gray hair, cataract formation, slender extremities, and severe insulin resistance ( 16 ).
[academic.oup.com]
Pseudoacromegaly Pseudoacromegaly, including frontal bossing, prominence of the jaw and malocclusion of the teeth, macroglossia, increased hand and foot size, skin tags, increased
[oncohemakey.com]
[…] vermilion Metaphyseal widening Micrognathia Sporadic Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like
[pubcasefinder.dbcls.jp]
Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900 Amelogenesis Imperfecta Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion
[mousephenotype.org]
facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary
[pubcasefinder.dbcls.jp]
Some patients have been described to have a bird-like facies.
[findzebra.com]
– Jaw joints, chewing muscles and bite abnormalities Bruxism Condylar resorption Mandibular dislocation Malocclusion Crossbite Open bite Overbite Overeruption Overjet Prognathia
[en.wikipedia.org]
Symptoms INHERITANCE: Autosomal recessive HEAD AND NECK: [Face]; Bird-like facies; [Eyes]; Eyelid margin cysts (hidrocystoma); [Teeth]; Hypodontia SKIN, NAILS, HAIR: [Skin
[findzebra.com]
Various emotional problems including the possibility of a psychic relation to cyclic vomiting were also described.5 In addition, the characteristic bird-like facies, retarded
[healio.com]
mild crowding, and malocclusions.
[ncbi.nlm.nih.gov]
normal sequence and timing of eruption and exfoliation of teeth; smaller tooth size; different and disproportional tooth components; normal alveolar bone height; small jaws
[ncbi.nlm.nih.gov]
Systemic Features: The facies are sometimes described as 'bird-like' with a beaked nose, brachycephaly, and micrognathia.
[disorders.eyes.arizona.edu]
Hine, and Levy classified microdontia into the following types: localized (focal) microdontia of a single tooth, relative generalized microdontia due to relatively large jaws
[journals.lww.com]
//creativecommons.org/licenses/by-nc-nd/4.0 1 Introduction Microdontia is a type of dental anomaly in which teeth appear smaller than usual, often causing food trapping, malocclusions
[journals.lww.com]
Werner’s syndrome, a progeria syndrome, presents with bird-like facies, gray hair, cataract formation, slender extremities, and severe insulin resistance ( 16 ).
[academic.oup.com]
[…] teeth that may be abnormally positioned (malocclusion).
[rarediseases.org]
The facies are sometimes described as ‘bird-like’ with a beaked nose.
[omicsonline.org]