Hallermann-Streiff syndrome
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.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0002254
syndromic disease
excluded_subClassOf
MONDO:0015160
multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
excluded_subClassOf
MONDO:0015329
obsolete malformation syndrome with short stature (obsolete MONDO:0015329)
excluded_subClassOf
MONDO:0019287
ectodermal dysplasia syndrome
excluded_subClassOf
MONDO:0019303
premature aging syndrome
excluded_subClassOf
MONDO:0019699
obsolete slender bone dysplasia (obsolete MONDO:0019699)
excluded_subClassOf
MONDO:0020188
obsolete congenital absence of the eyebrow/eyelashes (obsolete MONDO:0020188)
excluded_subClassOf
MONDO:0020234
obsolete craniofacial anomaly with cataract (obsolete MONDO:0020234)
excluded_subClassOf
MONDO:0043007
obsolete genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome (obsolete MONDO:0043007)
excluded_subClassOf
MONDO:0800063
primordial dwarfism and slender bone disorder
is_a
FranC'ois dyscephalic syndrome
exact
Francois dyscephalic syndrome
exact
François dyscephalic syndrome
exact
HSS
related
Hallermann Streiff Francois syndrome
related
Hallermann Streiff syndrome
related
Hallermann syndrome
exact
Hallermann's syndrome
exact
Hallermann-Streiff syndrome
exact
oculomandibulofacial syndrome
exact