Marshall-smith syndrome

Preferred Label : Marshall-smith syndrome;

Symbol : MRSHSS;

CISMeF acronym : MRSHSS;

Type : Phenotype, molecular basis known;

Description : The Marshall-Smith syndrome is a malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia (Adam et al., 2005).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the nuclear factor I/X gene (NFIX, 164005.0002);

Prefixed ID : #602535;

Details

Origin ID

602535;

UMLS CUI

C0265211;

Currated CISMeF NLP mapping
- Marshall syndrome [Disease (Nov.)]
- Marshall-Smith syndrome [DO Concept]
- Marshall-Smith syndrome [ICD-11 More detail]
- Marshall-Smith syndrome [MeSH concept]
- Marshall-Smith syndrome [MeSH Supplementary Concept]
- Marshall-Smith syndrome [ORDO Disease]
- Marshall-Smith syndrome (disorder) [SNOMED CT concept]
- marshall-smith syndrome [SNOMED Notion]
DO Cross reference
- Marshall-Smith syndrome [DO Concept]
Genes related to phenotype
- Nuclear factor I/x [OMIM gene]
HPO term(s)
- Absent septum pellucidum [HPO term]
- Accelerated skeletal maturation [HPO term]
- Agenesis of corpus callosum [HPO term]
- Airway obstruction [HPO term]
- Anteriorly placed anus [HPO term]
- Anteverted nares [HPO term]
- Apnea [HPO term]
- Aspiration pneumonia [HPO term]
- Atlantoaxial dislocation [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Axial hypotonia [HPO term]
- Bilateral conductive hearing impairment [HPO term]
- Bilateral cryptorchidism [HPO term]
- Blue sclerae [HPO term]
- Brisk reflexes [HPO term]
- Brittle hair [HPO term]
- Broad forehead [HPO term]
- Bullet-shaped middle phalanges of the hand [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebral atrophy [HPO term]
- Cervical cord compression [HPO term]
- Choanal atresia [HPO term]
- Choanal stenosis [HPO term]
- Cholesteatoma [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Coxa vara [HPO term]
- Craniosynostosis [HPO term]
- Cryptorchidism [HPO term]
- Deafness [HPO term]
- Death in childhood [HPO term]
- Decreased body weight [HPO term]
- Decreased hip abduction [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Distal widening of metacarpals [HPO term]
- Dolichocephaly [HPO term]
- Drooling [HPO term]
- Dysplastic aortic valve [HPO term]
- Early death [HPO term]
- Eclabion [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Flattened nasal bridge [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- Gingival overgrowth [HPO term]
- Glaucoma [HPO term]
- Global developmental delay [HPO term]
- Glossoptosis [HPO term]
- Hallux valgus [HPO term]
- Hearing impairment [HPO term]
- High forehead [HPO term]
- High myopia [HPO term]
- High palate [HPO term]
- Highly arched eyebrow [HPO term]
- Hip dysplasia [HPO term]
- Hydrocephalus [HPO term]
- Hypertension [HPO term]
- Hypertonia [HPO term]
- Hypertrichosis [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplasia of the odontoid process [HPO term]
- Hypotonia [HPO term]
- Increased linear growth [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, moderate [HPO term]
- Irregular dentition [HPO term]
- Isolated cases [HPO term]
- Kyphoscoliosis [HPO term]
- Kyphosis [HPO term]
- Large sternal ossification centers [HPO term]
- Laryngomalacia [HPO term]
- Low-set ears [HPO term]
- Macrogyria [HPO term]
- Melanocytic nevus [HPO term]
- Microdontia [HPO term]
- Microretrognathia [HPO term]
- Midface retrusion [HPO term]
- Motor delay [HPO term]
- Myopia [HPO term]
- Neonatal onset [HPO term]
- Obstructive sleep apnea [HPO term]
- Omphalocele [HPO term]
- Optic nerve hypoplasia [HPO term]
- Overfolded helix [HPO term]
- Pachygyria [HPO term]
- Patent ductus arteriosus [HPO term]
- Pectus excavatum [HPO term]
- Premature ventricular contraction [HPO term]
- Prominence of the premaxilla [HPO term]
- Prominent eyes [HPO term]
- Prominent fingertip pads [HPO term]
- Prominent forehead [HPO term]
- Prominent occiput [HPO term]
- Proptosis [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Pyloric stenosis [HPO term]
- Recurrent aspiration pneumonia [HPO term]
- Recurrent fractures [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- Retrognathia [HPO term]
- Scoliosis [HPO term]
- Shallow orbits [HPO term]
- Short distal phalanx of finger [HPO term]
- Short mandibular rami [HPO term]
- Short nose [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Short sternum [HPO term]
- Slender finger [HPO term]
- Slender long bone [HPO term]
- Sparse hair [HPO term]
- Spinal stenosis [HPO term]
- Sporadic [HPO term]
- Stridor [HPO term]
- Synophrys [HPO term]
- Tall stature [HPO term]
- Thick eyebrow [HPO term]
- Thoracic kyphosis [HPO term]
- Thoracic scoliosis [HPO term]
- Triangular face [HPO term]
- Umbilical hernia [HPO term]
- Upturned nose [HPO term]
- Ventricular septal defect [HPO term]
- Ventriculomegaly [HPO term]
- Wormian bones [HPO term]
ORDO concept(s)
- Marshall-Smith syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Marshall-Smith syndrome [ORDO Disease]
- Marshall-Smith syndrome [MeSH Supplementary Concept]
- Marshall-Smith syndrome [MeSH concept]
- Marshall-Smith syndrome [DO Concept]
- Marshall-Smith syndrome [ICD-11 More detail]
- Marshall-Smith syndrome (disorder) [SNOMED CT concept]
- marshall-smith syndrome [SNOMED Notion]

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