Nasodigitoacoustic syndrome

Preferred Label : Nasodigitoacoustic syndrome;

Obsolete resource : true;

Moved to : 301026;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Keipert syndrome;

Description : Keipert syndrome is characterized by brachydactyly, broad thumbs and halluces, hypertelorism and other minor facial dysmorphic features, and sensorineural deafness. Phenotypically related syndromes include Teunissen-Cremers syndrome (184460), Muenke syndrome (602849) and Keutel syndrome (245150) (Nik-Zainal et al., 2008).;

Inheritance : Autosomal dominant;

Prefixed ID : 255980;

Details

Origin ID

255980;

UMLS CUI

C1850627;

Currated CISMeF NLP mapping
- Keipert syndrome [ORDO Disease]
- Keipert syndrome (disorder) [SNOMED CT concept]
- Nasodigitoacoustic syndrome [MeSH concept]
- nasodigitoacoustic syndrome [MeSH Supplementary Concept]
- oto-palato-digital syndrome, type ii [SNOMED Notion]
HPO term(s)
- Abnormality of the nail [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad distal phalanx of finger [HPO term]
- Broad hallux [HPO term]
- Broad phalanges of the thumb [HPO term]
- Broad thumb [HPO term]
- Depressed nasal bridge [HPO term]
- Enlarged epiphyses [HPO term]
- Epicanthus [HPO term]
- Exaggerated cupid's bow [HPO term]
- Flattened nasal bridge [HPO term]
- Frontal bossing [HPO term]
- High palate [HPO term]
- Hoarse voice [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the toes [HPO term]
- Low hanging columella [HPO term]
- Narrow palate [HPO term]
- Prominent forehead [HPO term]
- Pulmonic stenosis [HPO term]
- Rounded epiphyses [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short 3rd metacarpal [HPO term]
- Short phalanx of finger [HPO term]
- Short stature [HPO term]
- Short toe [HPO term]
- Thick upper lip vermilion [HPO term]
ORDO concept(s)
- Keipert syndrome [ORDO Disease]
See also inter- (CISMeF)
- Oto-palato-digital syndrome, type II (disorder) [SNOMED CT concept]
- oto-palato-digital syndrome, type 2 [MeSH Supplementary Concept]
- otopalatodigital syndrome type 2 [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Keipert Syndrome [NCIt concept]
- Keipert syndrome [ORDO Disease]
- Keipert syndrome [DO Concept]
- Keipert syndrome (disorder) [SNOMED CT concept]
- Nasodigitoacoustic syndrome [MeSH concept]
- nasodigitoacoustic syndrome [MeSH Supplementary Concept]

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