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Hallermann-Streiff syndrome
Hallermann-Streiff syndrome (HSS) is a rare condition with characteristic features that are present at birth and become more apparent over time. Signs and symptoms include an unusually shaped skull, distinctive facial features, thin skin and hair, and eye and dental abnormalities. Other features include poor vision, a small upper airway, and short stature
Prevalence
1/5,000,000
66–100
US Estimated
75–110
Europe Estimated
Age of Onset
Neonatal
ICD-10
Q87.0
Inheritance
This condition does not appear to have a clear pattern of inheritance.
5 Facts you should know
FACT
Severe congenital microphthalmia and bilateral cataracts are hallmark ocular findings, often requiring surgical intervention within the first year of life
FACT
Craniofacial anomalies, including a bird-like facies, beaked nose, micrognathia, and dental hypoplasia are consistent and aid clinical recognition, often visible at birth
FACT
Most individuals have normal intelligence, despite striking physical features, although speech and feeding difficulties are frequent due to orofacial abnormalities
FACT
Neurological deterioration is relentless, progressing to severe cognitive decline, motor dysfunction, seizures, and loss of speech and mobility by adolescence
FACT
The disorder is almost always sporadic, with no clear inheritance pattern, and diagnosis is clinical, no specific gene has been definitively linked to HSS, though exome sequencing may help exclude other syndromes
Interest over time
Google searches
Common signs and symptoms
Bird-like facial appearance
Sparse scalp hair, eyebrows, and eyelashes
Small head
Dental abnormalities
Proportionate short stature
Congenital cataracts and other eye anomalies
Airway malformations
Breathing difficulties
Current treatments
No cure exists. Management is symptomatic and multidisciplinary:
Surgical correction
of cataracts and airway issues
Dental interventions
orthodontic or prosthodontic