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Oral and craniofacial disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Congenital cataracts, short stature, beaked nose with micrognathia and characteristic facies are all features of the Hallermann-Streiff syndrome. Inheritance is probably autosomal dominant, with most patients being new mutations, but few patients have reproduced. The risk of recurrence in sibs is minimal.
Management of noncicatricial circumscribed alopecia
Published in Pierre Bouhanna, Eric Bouhanna, The Alopecias, 2015
A patchy type of hair loss, particularly over the cranial sutures, and associated with cutaneous atrophy of the scalp, is a typical finding of the Hallermann–Streiff syndrome (oculomandibular dyscephaly). Patients have a typical bird-like face, due to a sharply curved, thick, pointed nose, and mandibular hypoplasia. Associated anomalies, believed to derive from a developmental defect of the branchial arch, are brachycephaly, dental, and ocular abnormalities.3
Molecular Genetics of Cleidocranial Dysplasia
Published in Fetal and Pediatric Pathology, 2021
Jamshid Motaei, Arash Salmaninejad, Ebrahim Jamali, Imaneh Khorsand, Mohammad Ahmadvand, Sasan Shabani, Farshid Karimi, Mohammad Sadegh Nazari, Golsa Ketabchi, Fatemeh Naqipour
Most ST are isolated cases, but some may be hereditary and associated with some syndromes. In a review article, Lubinsky et al, reports about 8 genetic syndromes with strong evidence for ST [52]. Syndromes that show supernumerary teeth include cleidocranial dysplasia, familial adenomatous polyposis, trichorhinophalangeal syndrome type I, Rubinstein–Taybi syndrome, Nance–Horan syndrome, Opitz BBB/G syndrome, oculofaciocardiodental syndrome and autosomal dominant Robinow syndrome. Several members of a single kindred in the Kreiborg–Pakistani syndrome (OMIM 614188) and insulin resistant diabetes mellitus with acanthosis nigricans (OMIM 610549) have been reported with ST [52,55,56]. Some Mendelian disorder have ST: Fabry disease, Ellis–van Creveld syndrome, Apert and Crouzon syndromes, Hallermann–Streiff syndrome, Zimmermann–Laband syndrome and Ehlers–Danlos syndrome [52].
22q11.2 microduplication syndrome and juvenile glaucoma
Published in Ophthalmic Genetics, 2018
Federico Di Matteo, Paolo Bettin, Giulia Ferrari, Marina Fiori, Carlo Ciampi, Emanuela Manfredini, Alessandro Rabiolo, Francesco Bandello
While the reported prevalence of glaucoma in dup22q11 is low, other genetic disorders with similar phenotypes are known to be more frequently related to glaucoma. Hallermann-Streiff syndrome is a complex association of developmental anomalies of unknown genetic origin. It is characterized mainly by head and facial anomalies, 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, and enamel hypoplasia) and hypotrichosis. Various ophthalmic manifestations have been reported, including blue sclera, nystagmus, strabismus, congenital cataract down slanting palpebral fissures, aniridia and sclerocornea. The incidence of glaucoma has been reported to range between 10% and 30%. We cannot rule out the possibility that various genetic abnormalities combined to give rise to the peculiar systemic and ophthalmic phenotype we observed in these two subjects.