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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
acrogeria 
acroosteolysis-keloid-like lesions-premature aging syndrome 
de Barsy syndrome +  
Flynn-Aird syndrome 
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.
hypoparathyroidism-retardation-dysmorphism syndrome 
IMAGe syndrome 
intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 
Kenny-Caffey syndrome +  
LMNA-related cardiocutaneous progeria syndrome 
Lowry-Wood syndrome 
mandibular hypoplasia-deafness-progeroid syndrome 
microcephalic osteodysplastic dysplasia, Saul-Wilson type 
microcephalic osteodysplastic primordial dwarfism type II 
microcephalic osteodysplastic primordial dwarfism types I and III +  
microcephalic primordial dwarfism due to RTTN deficiency +  
microcephalic primordial dwarfism, Alazami type 
microcephalic primordial dwarfism, Toriello type 
osteocraniostenosis 
progeroid syndrome +  
Progeroid syndrome, Petty type 
Roifman syndrome 
Rothmund-Thomson syndrome, type 3 
Seckel syndrome 2 
Seckel syndrome 8 
short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome 
telomere syndrome +   

Synonyms
Exact Synonyms: DOID:4534 ;   FranC'ois dyscephalic syndrome ;   Francois dyscephalic syndrome ;   François dyscephalic syndrome ;   Hallerman - Streiff syndrome ;   Hallermann syndrome ;   Hallermann's syndrome ;   NCIT:C84746 ;   Orphanet:2108 ;   http://identifiers.org/medgen/5414
Related Synonyms: HSS ;   Hallermann Streiff Francois syndrome
Alternate IDs: MONDO:0009318
Xrefs: DOID:4534 ;   GARD:288 ;   MEDGEN:5414 ;   MESH:D006210 ;   MIM:234100 ;   NANDO:2200973 ;   NCI:C84746 ;   NORD:1888 ;   ORDO:2108 ;   SCTID:7903009
see_also: https://rarediseases.info.nih.gov/diseases/288/hallermann-streiff-syndrome" xsd:anyURI {source="GARD:0000288
Definition Sources: Orphanet:2108

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