Carey-fineman-ziter syndrome 1

Preferred Label : Carey-fineman-ziter syndrome 1;

Symbol : CFZS1;

CISMeF acronym : CFZS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myopathy, congenital nonprogressive, with moebius sequence and robin sequence; CFZS;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the myomaker gene (MYMK, 615345.0001);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #254940;

Details

Origin ID

254940;

UMLS CUI

C5676876;

Automatic exact mappings (from CISMeF team)
- Carey-Fineman-Ziter syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Carey-Fineman-Ziter syndrome [DO Concept]
- Carey-Fineman-Ziter syndrome [ORDO Disease]
- Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder) [SNOMED CT concept]
- Myopathy, congenital nonprogressive with Moebius and Robin sequences [MeSH concept]
- myopathy, congenital nonprogressive with moebius and robin sequences [MeSH Supplementary Concept]
DO Cross reference
- Carey-Fineman-Ziter syndrome [DO Concept]
Genes related to phenotype
- Myomaker [OMIM gene]
HPO term(s)
- Abnormal cardiac septum morphology [HPO term]
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad nasal tip [HPO term]
- Cataract [HPO term]
- Cleft palate [HPO term]
- Cryptorchidism [HPO term]
- Decreased fetal movement [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Dysphagia [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Epicanthus [HPO term]
- Facial palsy [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Flexion contracture [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Glaucoma [HPO term]
- Global developmental delay [HPO term]
- Glossoptosis [HPO term]
- Growth delay [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Macrocephaly [HPO term]
- Microcephaly [HPO term]
- Microglossia [HPO term]
- Micrognathia [HPO term]
- Motor delay [HPO term]
- Myopathy [HPO term]
- Oculomotor nerve palsy [HPO term]
- Ophthalmoplegia [HPO term]
- Pectoralis hypoplasia [HPO term]
- Pierre-Robin sequence [HPO term]
- Plagiocephaly [HPO term]
- Ptosis [HPO term]
- Respiratory insufficiency [HPO term]
- Retrognathia [HPO term]
- Scoliosis [HPO term]
- Severe muscular hypotonia [HPO term]
- Skeletal muscle atrophy [HPO term]
- Slowly progressive [HPO term]
- Talipes equinovarus [HPO term]
- Tapered finger [HPO term]
- Trismus [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Carey-Fineman-Ziter syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Carey-Fineman-Ziter syndrome [ORDO Disease]
- Carey-Fineman-Ziter syndrome [DO Concept]
- Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder) [SNOMED CT concept]
- Myopathy, congenital nonprogressive with Moebius and Robin sequences [MeSH concept]
- myopathy, congenital nonprogressive with moebius and robin sequences [MeSH Supplementary Concept]

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