Hallermann–Streiff syndrome
| Hallermann–Streiff syndrome | |
|---|---|
| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| ICD-9-CM | 756.0 |
| OMIM | 234100 |
| DiseasesDB | 32617 |
| Patient UK | Hallermann–Streiff syndrome |
| MeSH | D006210 |
Hallermann–Streiff syndrome (also known as oculomandibulofacial syndrome, François dyscephalic syndrome, Hallermann–Streiff–François syndrome, oculomandibulodyscephaly with hypotrichosis, Aubry syndrome, and Ullrich-Fremery-Dohna syndrome) is a congenital disorder that affects growth, cranial development, hair growth and dental development.
There are fewer than 200 people with the syndrome worldwide.[citation needed] An organization supporting people with the Hallermann–Streiff syndrome is the Germany-based "Schattenkinder e.V."[1]
Presentation
Patients with this syndrome are shorter than the average person and may not develop hair in many places, including in the facial, leg and pubic areas. Patients also have eye problems including clouded eyes or reduced eye size, bilateral cataracts[2] and glaucoma.
It can be associated with sleep apnea.[3]
It can complicate intubation.[4]
Genetics
It may be associated with GJA1.[5]
Eponym
It is named for Wilhelm Hallermann and Enrico Streiff.[6][7][8]
References
- ↑ Germany based Schattenkinder e.V.
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- ↑ synd/1767 at Who Named It?
- ↑ W. Hallermann. Vogelgesicht und Cataracta congenita. Klinische Monatsblätter für Augenheilkunde, Stuttgart, 1948, 113: 315–318.
- ↑ E. B. Streiff. Dysmorphie mandibulo-faciale (tête d’oiseau) et alterations oculaires. Ophthalmologica, Basel, 1950, 120: 79–83.
9. A TYPICAL HALLERMAN-STREIF SYNDROME IN A 3-YEAR OLD CHILD. Vadiakas G., Oulis C., Tsianos E., Siamopoulou-Mavridou J Clin Pediatr Dent 20: 63-68, 1995.
External links
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