Hallermann-streiff syndrome

Preferred Label : Hallermann-streiff syndrome;

Symbol : HSS;

CISMeF acronym : HSS;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Francois dyscephalic syndrome;

Description : Hallermann-Streiff syndrome is characterized by a typical skull shape (brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies, and proportionate short stature (Hallermann, 1948; Streiff, 1950; Francois, 1958). Mental retardation is present in a minority of cases (Gorlin et al., 1990).;

Inheritance : Isolated cases;

Prefixed ID : %234100;

Details

Origin ID

234100;

UMLS CUI

C0018522;

Automatic exact mappings (from CISMeF team)
- GJA1 wt Allele [NCIt concept]
- Hallermann Streiff François syndrome [PASCAL descriptor]
- Hallermann-Streiff-François syndrome [ICD-11 More detail]
- Hour Of Sleep [NCIt concept]
- Hughes Stovin syndrome (disorder) [SNOMED CT concept]
- MAP3K14 wt Allele [NCIt concept]
- N-sulfoglucosamine sulfohydrolase [ORDO Gene]
- N-sulfoglucosamine sulfohydrolase [HGNC gene]
- growth factor, augmenter of liver regeneration [ORDO Gene]
- growth factor, augmenter of liver regeneration [HGNC gene]
- hypotrichosis simplex of scalp [MeSH Supplementary Concept]
- pantothenate kinase 2 [ORDO Gene]
- pantothenate kinase 2 [HGNC gene]
- sperm associated antigen 9 [HGNC gene]
- symbol withdrawn NBIA1 [HGNC gene]
Currated CISMeF NLP mapping
- Hallermann Streiff syndrome [Disease (Nov.)]
- Hallermann Syndrome [NCIt concept]
- Hallermann-Streiff syndrome [DO Concept]
- Hallermann-Streiff syndrome [ORDO Disease]
- Hallermann-Streiff syndrome (disorder) [SNOMED CT concept]
- hallermann's syndrome [MeSH Descriptor]
- hallermann's syndrome [MeSH concept]
- hallermann-streiff syndrome [SNOMED Notion]
DO Cross reference
- Hallermann-Streiff syndrome [DO Concept]
HPO term(s)
- Abnormal rib cage morphology [HPO term]
- Abnormality of the hand [HPO term]
- All cases sporadic [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Blue sclerae [HPO term]
- Brachycephaly [HPO term]
- Cataract [HPO term]
- Choreoathetosis [HPO term]
- Chorioretinal coloboma [HPO term]
- Cryptorchidism [HPO term]
- Decreased number of sternal ossification centers [HPO term]
- Dental malocclusion [HPO term]
- Dermal atrophy [HPO term]
- Dolichocephaly [HPO term]
- Downslanted palpebral fissures [HPO term]
- Dry skin [HPO term]
- Everted lower lip vermilion [HPO term]
- Fine hair [HPO term]
- Frontal bossing [HPO term]
- High palate [HPO term]
- High, narrow palate [HPO term]
- High-arched palate [HPO term]
- Hyperactivity [HPO term]
- Hyperlordosis [HPO term]
- Hypertension [HPO term]
- Hypotrichosis of the scalp [HPO term]
- Intellectual disability [HPO term]
- Iris coloboma [HPO term]
- Isolated cases [HPO term]
- Joint hypermobility [HPO term]
- Lordosis [HPO term]
- Low-set ears [HPO term]
- Malar flattening [HPO term]
- Metaphyseal widening [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Microphthalmia [HPO term]
- Narrow mouth [HPO term]
- Narrow nose [HPO term]
- Narrow palate [HPO term]
- Natal tooth [HPO term]
- Nystagmus [HPO term]
- Obstructive sleep apnea [HPO term]
- Optic disc coloboma [HPO term]
- Parietal bossing [HPO term]
- Pectus excavatum [HPO term]
- Platybasia [HPO term]
- Prominent nasal bridge [HPO term]
- Proportionate short stature [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent respiratory infections [HPO term]
- Scaphocephaly [HPO term]
- Scoliosis [HPO term]
- Selective tooth agenesis [HPO term]
- Slender long bone [HPO term]
- Small for gestational age [HPO term]
- Small, pointed nose [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse eyelashes [HPO term]
- Sparse hair [HPO term]
- Sparse scalp hair [HPO term]
- Sparse, fine hair [HPO term]
- Spina bifida [HPO term]
- Sporadic [HPO term]
- Strabismus [HPO term]
- Supernumerary tooth [HPO term]
- Telangiectasia [HPO term]
- Thin calvarium [HPO term]
- Thin hair [HPO term]
- Thin lips [HPO term]
- Thin ribs [HPO term]
- Thin vermilion border [HPO term]
- Thin, gracile long bones [HPO term]
- Tracheomalacia [HPO term]
- Underdeveloped nasal alae [HPO term]
- Wormian bones [HPO term]
ORDO concept(s)
- Hallermann-Streiff syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hallermann Syndrome [NCIt concept]
- Hallermann-Streiff syndrome [ORDO Disease]
- Hallermann-Streiff syndrome [DO Concept]
- Hallermann-Streiff syndrome (disorder) [SNOMED CT concept]
- hallermann's syndrome [MeSH Descriptor]
- hallermann's syndrome [MeSH concept]
- hallermann-streiff syndrome [SNOMED Notion]

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