Diagnosis, Early Care, and Treatment of Hallermann-Streiff Syndrome: A Review of the Literature

Abstract

Hallermann-Streiff syndrome is a rare congenital disorder characterized by a wide spectrum of craniofacial abnormalities. A review of the available literature reveals that only approximately 200 cases of the disease have been reported worldwide. For this article, we performed a literature review as a basis for a proposed scheme for early care and treatment. A comprehensive database search was carried out with the use of Medline (PubMed), ISI Web of Science, and ScienceDirect/Scopus. Of the 551 studies initially found, an evaluation using inclusion and exclusion criteria ultimately resulted in a total of 33 articles. Most of the articles are case reports, and only approximately 20% of these articles include treatment options. We propose an early care and treatment schedule based on the presented symptoms. [ Pediatr Ann . 2021;50(5):e227–e231.]

Long term NIV in an infant with Hallermann-Streiff syndrome: A case report and overview of respiratory morbidity

“…It is highly variable but may potentially be life-threatening ( 7 – 10 ). Microretrognatia, microstome, and mid-face hypoplasia with narrow nose, sometimes associated with glossoptosis or laryngomalacia, result in an important narrowness of upper airways leading to anesthetic airway management difficulties ( 11 ) and OSAS ( 2 ). Tracheomalacia has also been reported in some cases of HSS ( 9 ), and tracheobronchoscopy should be performed in case of suggestive symptoms (early-onset inspiro-expiratory noise, fixed wheeze, recurrent infections, or chronic brassy cough).…”

Long term NIV in an infant with Hallermann-Streiff syndrome: A case report and overview of respiratory morbidity

“…It is highly variable but may potentially be life-threatening ( 7 – 10 ). Microretrognatia, microstome, and mid-face hypoplasia with narrow nose, sometimes associated with glossoptosis or laryngomalacia, result in an important narrowness of upper airways leading to anesthetic airway management difficulties ( 11 ) and OSAS ( 2 ). Tracheomalacia has also been reported in some cases of HSS ( 9 ), and tracheobronchoscopy should be performed in case of suggestive symptoms (early-onset inspiro-expiratory noise, fixed wheeze, recurrent infections, or chronic brassy cough).…”

Hallermann-Streiff syndrome diagnosed in the seventh decade of life

“…The anomalies of HSS are seen in multiple organs/tissues and required treatments change with aging, therefore, timely diagnosis and subsequent planning of multidisciplinary treatment approaches at each stage are critical. 19 The presence of a corneal opacity, short axial length, and a blue sclera recognized by ophthalmologists can lead to the correct diagnosis of this congenital disorder.…”

The Role of Klotho in Pediatric Premature Aging Diseases

“…This mutation causes RNA mis-splicing that produces progerin, a toxic protein that induces rapid ageing and shortens the lifespan of children with progeria to approximately 14 years [22]. Differential diagnosis includes Hallermann-Streiff syndrome, Gottron syndrome and Wiedemann-Rautenstrauch syndrome [31][32][33][34][35][36][37]. The usual onset is 9-24 months .…”

“…Hallermann-Streiff-Syndrome: Hallermann-Streiff syndrome (HSS for short, other names: Bird's disease, Hallermann-Streiff-François syndrome, English: Oculomandibulodyscephaly with hypotrichosis, Oculomandibulofacial syndrome) is a rare, sporadically occurring malformation syndrome in humans [31][32][33][34][35][36][37]. Only about one hundred cases have been described in the literature [31][32][33][34][35][36][37]. However, there are reports of familial frequency.…”

“…Affected individuals exhibit, among other features, proportionate short stature, a peculiar facial shape with a very small, beak-like curved nose and small lower jaw (micrognathia), congenital eye malformation with an eyeball that is too small (microphthalmia) and opacification of the lenses (congenital cataract), and thinning hair [31][32][33][34][35][36][37]. The tongue of people with HSS usually develops to a usual size, so that it is disproportionately large in relation to the small body [31][32][33][34][35][36][37]. This often leads to problems with eating and breathing.…”

Long term NIV in an infant with Hallermann-Streiff syndrome: A case report and overview of respiratory morbidity

“…It is highly variable but may potentially be life-threatening ( 7 – 10 ). Microretrognatia, microstome, and mid-face hypoplasia with narrow nose, sometimes associated with glossoptosis or laryngomalacia, result in an important narrowness of upper airways leading to anesthetic airway management difficulties ( 11 ) and OSAS ( 2 ). Tracheomalacia has also been reported in some cases of HSS ( 9 ), and tracheobronchoscopy should be performed in case of suggestive symptoms (early-onset inspiro-expiratory noise, fixed wheeze, recurrent infections, or chronic brassy cough).…”

Hallermann-Streiff syndrome diagnosed in the seventh decade of life

“…The anomalies of HSS are seen in multiple organs/tissues and required treatments change with aging, therefore, timely diagnosis and subsequent planning of multidisciplinary treatment approaches at each stage are critical. 19 The presence of a corneal opacity, short axial length, and a blue sclera recognized by ophthalmologists can lead to the correct diagnosis of this congenital disorder.…”

The Role of Klotho in Pediatric Premature Aging Diseases

“…This mutation causes RNA mis-splicing that produces progerin, a toxic protein that induces rapid ageing and shortens the lifespan of children with progeria to approximately 14 years [22]. Differential diagnosis includes Hallermann-Streiff syndrome, Gottron syndrome and Wiedemann-Rautenstrauch syndrome [31][32][33][34][35][36][37]. The usual onset is 9-24 months .…”

“…Hallermann-Streiff-Syndrome: Hallermann-Streiff syndrome (HSS for short, other names: Bird's disease, Hallermann-Streiff-François syndrome, English: Oculomandibulodyscephaly with hypotrichosis, Oculomandibulofacial syndrome) is a rare, sporadically occurring malformation syndrome in humans [31][32][33][34][35][36][37]. Only about one hundred cases have been described in the literature [31][32][33][34][35][36][37]. However, there are reports of familial frequency.…”

“…Affected individuals exhibit, among other features, proportionate short stature, a peculiar facial shape with a very small, beak-like curved nose and small lower jaw (micrognathia), congenital eye malformation with an eyeball that is too small (microphthalmia) and opacification of the lenses (congenital cataract), and thinning hair [31][32][33][34][35][36][37]. The tongue of people with HSS usually develops to a usual size, so that it is disproportionately large in relation to the small body [31][32][33][34][35][36][37]. This often leads to problems with eating and breathing.…”

Long term NIV in an infant with Hallermann-Streiff syndrome: A case report and overview of respiratory morbidity

“…It is highly variable but may potentially be life-threatening ( 7 – 10 ). Microretrognatia, microstome, and mid-face hypoplasia with narrow nose, sometimes associated with glossoptosis or laryngomalacia, result in an important narrowness of upper airways leading to anesthetic airway management difficulties ( 11 ) and OSAS ( 2 ). Tracheomalacia has also been reported in some cases of HSS ( 9 ), and tracheobronchoscopy should be performed in case of suggestive symptoms (early-onset inspiro-expiratory noise, fixed wheeze, recurrent infections, or chronic brassy cough).…”

Hallermann-Streiff syndrome diagnosed in the seventh decade of life

“…The anomalies of HSS are seen in multiple organs/tissues and required treatments change with aging, therefore, timely diagnosis and subsequent planning of multidisciplinary treatment approaches at each stage are critical. 19 The presence of a corneal opacity, short axial length, and a blue sclera recognized by ophthalmologists can lead to the correct diagnosis of this congenital disorder.…”

The Role of Klotho in Pediatric Premature Aging Diseases

“…This mutation causes RNA mis-splicing that produces progerin, a toxic protein that induces rapid ageing and shortens the lifespan of children with progeria to approximately 14 years [22]. Differential diagnosis includes Hallermann-Streiff syndrome, Gottron syndrome and Wiedemann-Rautenstrauch syndrome [31][32][33][34][35][36][37]. The usual onset is 9-24 months .…”

“…Hallermann-Streiff-Syndrome: Hallermann-Streiff syndrome (HSS for short, other names: Bird's disease, Hallermann-Streiff-François syndrome, English: Oculomandibulodyscephaly with hypotrichosis, Oculomandibulofacial syndrome) is a rare, sporadically occurring malformation syndrome in humans [31][32][33][34][35][36][37]. Only about one hundred cases have been described in the literature [31][32][33][34][35][36][37]. However, there are reports of familial frequency.…”

“…Affected individuals exhibit, among other features, proportionate short stature, a peculiar facial shape with a very small, beak-like curved nose and small lower jaw (micrognathia), congenital eye malformation with an eyeball that is too small (microphthalmia) and opacification of the lenses (congenital cataract), and thinning hair [31][32][33][34][35][36][37]. The tongue of people with HSS usually develops to a usual size, so that it is disproportionately large in relation to the small body [31][32][33][34][35][36][37]. This often leads to problems with eating and breathing.…”