Details of Disease

General Information of Disease (ID: DISNT5DL)

Disease Name Hallermann-Streiff syndrome
Synonyms
Hallermann Streiff syndrome; HSS; Hallermann Streiff Francois syndrome; Franois dyscephalic syndrome; FranC'ois dyscephalic syndrome; Hallermann syndrome; Hallermann-Streiff syndrome; oculomandibulofacial syndrome; Hallerman - Streiff syndrome; Francois dyscephalic syndrome; Hallermann's syndrome
Definition
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.
Disease Hierarchy
DISZ93BO: Primordial dwarfism and slender bone disorder
DIS51AGT: Premature aging syndrome
DISNT5DL: Hallermann-Streiff syndrome
Disease Identifiers
MONDO ID
MONDO_0009318
MESH ID
D006210
UMLS CUI
C0018522
OMIM ID
234100
MedGen ID
5414
Orphanet ID
2108
SNOMED CT ID
7903009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GJA1 TT4F7SL Limited Autosomal recessive [1]
GJA1 TT4F7SL Strong Genetic Variation [2]
------------------------------------------------------------------------------------
This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GJA1 OTT94MKL Limited Autosomal recessive [1]
MLN OTBZ5SE5 Strong Genetic Variation [3]
PANK2 OTFBW889 Strong Biomarker [4]
PANK1 OT2CZVRT Definitive Biomarker [5]
------------------------------------------------------------------------------------

References

1 A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype. Hum Mutat. 2004 Mar;23(3):286. doi: 10.1002/humu.9220.
2 Gap junctions in inherited human disorders of the central nervous system.Biochim Biophys Acta. 2012 Aug;1818(8):2030-47. doi: 10.1016/j.bbamem.2011.08.015. Epub 2011 Aug 16.
3 Genetic susceptibility to carbamazepine-induced cutaneous adverse drug reactions. Pharmacogenet Genomics. 2006 Apr;16(4):297-306. doi: 10.1097/01.fpc.0000199500.46842.4a.
4 Dietary rescue of fumble--a Drosophila model for pantothenate-kinase-associated neurodegeneration.J Inherit Metab Dis. 2005;28(6):1055-64. doi: 10.1007/s10545-005-0200-0.
5 A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nat Genet. 2001 Aug;28(4):345-9. doi: 10.1038/ng572.