Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1

Preferred Label : Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1;

Symbol : CFSMR1;

CISMeF acronym : CFSMR;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cerebrofaciothoracic dysplasia; CFSMR; Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the transmembrane and coiled-coil domains protein 1 gene (TMCO1, 614123.0001);

Prefixed ID : #213980;

Details

Origin ID

213980;

UMLS CUI

C5677021;

Automatic exact mappings (from CISMeF team)
- Cerebrofaciothoracic dysplasia [ICD-11 More detail]
Currated CISMeF NLP mapping
- Cerebro-facio-thoracic dysplasia (disorder) [SNOMED CT concept]
- Cerebrofaciothoracic dysplasia [ORDO Disease]
- cerebrofaciothoracic dysplasia [MeSH concept]
- cerebrofaciothoracic dysplasia [MeSH Supplementary Concept]
Genes related to phenotype
- Transmembrane and coiled-coil domains protein 1 [OMIM gene]
HPO term(s)
- Abnormality of the kidney [HPO term]
- Absent speech [HPO term]
- Anxiety [HPO term]
- Atrial septal defect [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autosomal recessive inheritance [HPO term]
- Beaking of vertebral bodies [HPO term]
- Bifid ribs [HPO term]
- Brachycephaly [HPO term]
- Bull's eye maculopathy [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Craniosynostosis [HPO term]
- Decreased fetal movement [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Epicanthus [HPO term]
- Feeding difficulties [HPO term]
- Flat face [HPO term]
- Gingival overgrowth [HPO term]
- Hemivertebrae [HPO term]
- High palate [HPO term]
- Highly arched eyebrow [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Hypotonia [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Joint hypermobility [HPO term]
- Large for gestational age [HPO term]
- Long eyelashes [HPO term]
- Low anterior hairline [HPO term]
- Low posterior hairline [HPO term]
- Low-set ears [HPO term]
- Low-set, posteriorly rotated ears [HPO term]
- Macrocephaly [HPO term]
- Microcephaly [HPO term]
- Microdontia of primary teeth [HPO term]
- Micrognathia [HPO term]
- Motor delay [HPO term]
- Narrow chest [HPO term]
- Narrow forehead [HPO term]
- Neonatal hypotonia [HPO term]
- Overlapping toe [HPO term]
- Patent ductus arteriosus [HPO term]
- Pes planus [HPO term]
- Poliosis [HPO term]
- Polyhydramnios [HPO term]
- Postaxial hand polydactyly [HPO term]
- Posteriorly rotated ears [HPO term]
- Postnatal growth retardation [HPO term]
- Ptosis [HPO term]
- Rib fusion [HPO term]
- Sacral dimple [HPO term]
- Scoliosis [HPO term]
- Self-mutilation [HPO term]
- Shawl scrotum [HPO term]
- Short neck [HPO term]
- Short nose [HPO term]
- Short stature [HPO term]
- Short, broad nose [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse eyelashes [HPO term]
- Strabismus [HPO term]
- Supernumerary nipple [HPO term]
- Synophrys [HPO term]
- Talipes equinovarus [HPO term]
- Thick eyebrow [HPO term]
- Upslanted palpebral fissure [HPO term]
- Wide intermamillary distance [HPO term]
- Wide nose [HPO term]
ORDO concept(s)
- Cerebrofaciothoracic dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebrofaciothoracic dysplasia [ORDO Disease]
- cerebrofaciothoracic dysplasia [MeSH Supplementary Concept]
- cerebrofaciothoracic dysplasia [MeSH concept]

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