Hallermann-Streiff syndrome

Abstract

Hallermann-Streiff syndrome (HSS) is a rare disorder characterized by dyscephalia, with facial and dental abnormalities. We report a 12-year-old female child who presented with abnormal facial features, dental abnormalities and sparse scalp hair.

Hallermann Streiff Syndrome-The Oral Manifestations in a Child

“…In our case also the patient was reported to have recurrent respiratory infections. Other anomalies reported in such patients are skeletal defects, cardiac defects (ventricular septal defect reported in our patient), hematopoietic abnormalities, and pulmonary anomalies [9]. In addition to dental anomalies, TMJ anomalies have been reported in these patients, including aplasia/hypoplasia of the condyles and …”

A familial study of Hallermann–Streiff–François syndrome

“…Oculo-facio-cardio-dental syndrome is a syndrome of multiple congenital abnormalities characterized by dental radiculomegaly, congenital cataract, facial dysmorphism and a congenital cardiac abnormality 29. Patients with Hallermann–Streiff–François syndrome might also have complications due to anatomical abnormalities of the upper respiratory tract such as swallowing difficulties, congestion of the respiratory tract, sleep apnea and cor pulmonale as a result of tracheomalacia 5,27. In our family case, there was no cardio-respiratory lesion.…”

“…Warburg in 1971 affirmed that the diagnosis of Hallermann–Streiff–François syndrome will be doubtful in the absence of cataract or microphthalmia;16 our three patients presented with cataract and microphthalmia, which are arguments in favor of the diagnosis. The dental examination is important since there are facial and craniofacial malformations 4,18,26,27. There may be mandible hypoplasia, lower jaw movement restriction, high-arched palate (palatine vault is curved), microdontia (narrow teeth root), presence of neonatal teeth (teeth present from birth), supernumerary teeth,18 dental growth restriction,26 and at times hypodontia (loss of a few teeth), or partial anodontia (absence of a series of teeth).…”

Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology

“…The Hallermann-Streiff syndrome (HSS; OMIM ID: #234100) is a rare congenital disorder characterized by craniofacial and dental dysmorphisms with a specific facial gestalt, eye malformations, distinctive facial features, hair and skin abnormalities, and short stature. Due to its clinical course and progression, HSS is regarded as a premature aging disorder 29, 30,31 . With only few cases reported to date, and with virtually all reports being descriptive, there is an apparent need for dissecting the molecular pathways underlying HSS 32 .…”