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Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities 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, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases.
Features include sometimes findings: Intellectual disability. 66 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 5 | Excessive inward curvature of the lower spine (hyperlordosis), Joint hypermobility, Sideways curvature of the spine (scoliosis) |
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for Hallermann-Streiff syndrome.
4 publications have been identified in PubMed for Hallermann-Streiff syndrome. Research spans Other (50%), Review / Meta-Analysis (25%), and Case Report / Case Series (25%).
Cavender C (2026). [PMID: 41742277](https://pubmed.ncbi.nlm.nih.gov/41742277/). *Orphanet J Rare Dis*. [Review / Meta-Analysis]
Ramírez LMR (2026). [PMID: 41541448](https://pubmed.ncbi.nlm.nih.gov/41541448/). *J Orthop Case Rep*. [Case Report / Case Series]
Segal N (2026). [PMID: 41878832](https://pubmed.ncbi.nlm.nih.gov/41878832/). *Twin Res Hum Genet*. [Other]
Guerin S (2024). [PMID: 39703948](https://pubmed.ncbi.nlm.nih.gov/39703948/). *Front Pediatr*. [Other]
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:03 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Hallermann-Streiff syndrome
5 |
Microcephaly, High, narrow palate, Narrow palate |
Eyes | 4 | Strabismus, Cataract, Nystagmus |
Lungs and breathing | 4 | Obstructive sleep apnea, Recurrent pneumonia, High blood pressure in lung arteries (pulmonary arterial hypertension) |
Brain and nerves | 2 | Bilateral tonic-clonic seizure, Intellectual disability |
Skin | 2 | Dry skin, Telangiectasia |
Heart and blood vessels | 2 | High blood pressure in lung arteries (pulmonary arterial hypertension), Hypertension |
Growth and development | 1 | Proportionate short stature |
Muscles | 1 | Dermal atrophy |
Arms and legs | 1 | Hand abnormalities (abnormality of the hand) |
Blood and immune system | 1 | Recurrent respiratory infections |