Myhre syndrome

Preferred Label : Myhre syndrome;

Symbol : MYHRS;

CISMeF acronym : MYHRS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Laps syndrome; Growth-mental deficiency syndrome of myhre; Laryngotracheal stenosis, arthropathy, prognathism, and short stature;

Description : Myhre syndrome is a rare disorder characterized by mental retardation, dysmorphic facial features, including microcephaly, midface hypoplasia, prognathism, and blepharophimosis, as well as typical skeletal anomalies, including short stature, square body shape, broad ribs, iliac hypoplasia, brachydactyly, flattened vertebrae, and thickened calvaria. Other features, such as congenital heart disease, may also occur. All reported cases have been sporadic (summary by Bachmann-Gagescu et al., 2011).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SMAD family member 4 gene (SMAD4, 600993.0015);

Prefixed ID : #139210;

Détails

Origin ID

139210;

UMLS CUI

C0796081;

Automatic exact mappings (from CISMeF team)
- SMAD4 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Growth mental deficiency syndrome of Myhre [MeSH concept]
- Myhre Syndrome [NCIt concept]
- Myhre syndrome [Disease (Nov.)]
- Myhre syndrome [ORDO Disease]
- Myhre syndrome (disorder) [SNOMED CT concept]
- growth mental deficiency syndrome of myhre [MeSH Supplementary Concept]
Genes related to phenotype
- Smad family member 4 [OMIM gene]
HPO term(s)
- 2-3 toe syndactyly [HPO term]
- Abnormality of the voice [HPO term]
- Aortic valve stenosis [HPO term]
- Ataxia [HPO term]
- Atrial septal defect [HPO term]
- Autism [HPO term]
- Autosomal dominant inheritance [HPO term]
- Birth length less than 3rd percentile [HPO term]
- Blepharophimosis [HPO term]
- Brachydactyly [HPO term]
- Broad ribs [HPO term]
- Camptodactyly [HPO term]
- Cataract [HPO term]
- Cleft lip [HPO term]
- Cleft palate [HPO term]
- Clinodactyly [HPO term]
- Coarctation of aorta [HPO term]
- Cone-shaped epiphysis [HPO term]
- Cryptorchidism [HPO term]
- Deafness [HPO term]
- Deeply set eye [HPO term]
- Enlarged vertebral pedicles [HPO term]
- Fine hair [HPO term]
- Generalized muscle hypertrophy [HPO term]
- Hearing impairment [HPO term]
- Hypermetropia [HPO term]
- Hypertelorism [HPO term]
- Hypertension [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Hypoplastic iliac wing [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Joint stiffness [HPO term]
- Laryngotracheal stenosis [HPO term]
- Limitation of joint mobility [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Malar flattening [HPO term]
- Mandibular prognathia [HPO term]
- Microcephaly [HPO term]
- Microphthalmia [HPO term]
- Microtia [HPO term]
- Midface retrusion [HPO term]
- Narrow mouth [HPO term]
- Narrow palpebral fissure [HPO term]
- Obesity [HPO term]
- Overlapping toe [HPO term]
- Patent ductus arteriosus [HPO term]
- Pericardial effusion [HPO term]
- Platyspondyly [HPO term]
- Prenatal growth deficiency [HPO term]
- Prominent nasal bridge [HPO term]
- Prominent nasal root [HPO term]
- Radial deviation of finger [HPO term]
- Respiratory failure [HPO term]
- Respiratory insufficiency [HPO term]
- Seizure [HPO term]
- Short finger [HPO term]
- Short long bone [HPO term]
- Short neck [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Short toe [HPO term]
- Skeletal muscle hypertrophy [HPO term]
- Small for gestational age [HPO term]
- Sparse hair [HPO term]
- Stiff skin [HPO term]
- Strabismus [HPO term]
- Thick eyebrow [HPO term]
- Thickened calvaria [HPO term]
- Thickened skin [HPO term]
- Thin upper lip vermilion [HPO term]
- Ventricular septal defect [HPO term]
- Vertebral fusion [HPO term]
ORDO concept(s)
- Myhre syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Growth mental deficiency syndrome of Myhre [MeSH concept]
- Myhre Syndrome [NCIt concept]
- Myhre syndrome [ORDO Disease]
- Myhre syndrome [Disease (Nov.)]
- Myhre syndrome (disorder) [SNOMED CT concept]
- growth mental deficiency syndrome of myhre [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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