Carey-Fineman-Ziter syndrome

Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay.



Input patient's signs and symptoms


Narrow down the case reports



Total: 6 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(57.8%)		 15150779
 Mobius sequence, Robin complex, and hypotonia: severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndrome.
Verloes A, Bitoun P, Heuskin A, Amrom D, van de Broeck H, Nikkel SM, Chudley AE, Prasad AN, Rusu C, Covic M, Toutain A, Moraine C, Parisi MA, Patton M, Martin JJ, Van Thienen MN.
Am J Med Genet A. 2004;127A(3):277-87.
Micrognathia
Brain Stem Females Homo sapiens Infant, Newborn Male Mobius Syndrome Pierre Robin Syndrome Syndrome
1
(57.8%)		 9934972
 Carey-Fineman-Ziter (CFZ) syndrome: report on affected sibs.
Ryan A, Marshall T, FitzPatrick DR.
Am J Med Genet. 1999;82(2):110-3.
Micrognathia
Females Homo sapiens Infant, Newborn Male Nuclear Family
3
(45.9%)		 28777491
(5843189)
 Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.
Telegrafi A, Webb BD, Robbins SM, Speck-Martins CE, FitzPatrick D, Fleming L, Redett R, Dufke A, Houge G, van Harssel JJT, Verloes A, Robles A, Manoli I, Engle EC, , Jabs EW, Valle D, Carey J, Hoover-Fong JE, Sobreira NLM.
Am J Med Genet A. 2017;173(10):2763-2771.
Talipes Myopathic facies Scoliosis
STAC3
c|DEL|763_766|CTCT;RS#:773050511 c|SUB|G|851|C;RS#:140291094 p|FS|L|255|I|58;RS#:773050511 p|SUB|W|284|S;RS#:140291094 rs140291094 rs773050511
Adaptor Proteins, Signal Transducing Adult Child Females Homo sapiens Male Mobius Syndrome Mutation Myopathy Pierre Robin Syndrome Young Adult
4
(45.4%)		 27232676
 Temporomandibular joint ankylosis as part of the clinical spectrum of Carey-Fineman-Ziter syndrome?
Pasetti M, Mazzoleni F, Novelli G, Iascone M, Bozzetti A, Selicorni A.
Am J Med Genet A. 2016;170(8):2191-5.
Pierre-Robin sequence Temporomandibular joint ankylosis
Ankylosis Facies Females Homo sapiens Infant, Newborn Magnetic Resonance Imaging Mobius Syndrome Myopathy Phenotype Physical Examination Pierre Robin Syndrome Temporomandibular Joint Disorders Tomography, Spiral Computed
5
(17.5%)		 8362917
 Congenital nonprogressive myopathy with Mobius and Robin sequence--the Carey-Fineman-Ziter syndrome: a confirmatory report.
Schimke RN, Collins DL, Hiebert JM.
Am J Med Genet. 1993;46(6):721-3.
Failure to thrive Myopathy
Child, Preschool Homo sapiens Male Myopathy Syndrome
6
(4.0%)		 7856641
 New case of the Carey-Fineman-Ziter syndrome.
Baraitser M, Reardon W.
Am J Med Genet. 1994;53(2):163-4.
Ophthalmoplegia
Child, Preschool Face Foot Deformities Homo sapiens Male Ophthalmoplegia Phenotype Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 36

HPO ID Term Frequency
HP:0000201 Pierre-Robin sequence Very frequent (99-80%)
HP:0000233 Thin vermilion border Very frequent (99-80%)
HP:0000286 Epicanthus Very frequent (99-80%)
HP:0000343 Long philtrum Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000463 Anteverted nares Very frequent (99-80%)
HP:0000494 Downslanted palpebral fissures Very frequent (99-80%)
HP:0000508 Ptosis Very frequent (99-80%)
HP:0000634 Impaired ocular abduction Very frequent (99-80%)
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0001252 Muscular hypotonia Very frequent (99-80%)
HP:0003196 Short nose Very frequent (99-80%)
HP:0003202 Skeletal muscle atrophy Very frequent (99-80%)
HP:0010295 Aplasia/Hypoplasia of the tongue Very frequent (99-80%)
HP:0010628 Facial palsy Very frequent (99-80%)
HP:0000162 Glossoptosis Frequent (79-30%)
HP:0000175 Cleft palate Frequent (79-30%)
HP:0000218 High palate Frequent (79-30%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0001249 Intellectual disability Frequent (79-30%)
HP:0001510 Growth delay Frequent (79-30%)
HP:0001762 Talipes equinovarus Frequent (79-30%)
HP:0002650 Scoliosis Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0006824 Cranial nerve paralysis Frequent (79-30%)
HP:0000126 Hydronephrosis Occasional (29-5%)
HP:0000807 Glandular hypospadias Occasional (29-5%)
HP:0001600 Abnormality of the larynx Occasional (29-5%)
HP:0001602 Laryngeal stenosis Occasional (29-5%)
HP:0002119 Ventriculomegaly Occasional (29-5%)
HP:0002514 Cerebral calcification Occasional (29-5%)
HP:0003198 Myopathy Occasional (29-5%)
HP:0007360 Aplasia/Hypoplasia of the cerebellum Occasional (29-5%)
HP:0009465 Ulnar deviation of finger Occasional (29-5%)
HP:0009751 Aplasia of the pectoralis major muscle Occasional (29-5%)
HP:0100735 Hypertensive crisis Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 8

HPO ID Term # of case reports
HP:0003198 Myopathy 2
HP:0000508 Ptosis 1
HP:0001510 Growth delay 1
HP:0001762 Talipes equinovarus 1
HP:0002058 Myopathic facies 1
HP:0002650 Scoliosis 1
HP:0002751 Kyphoscoliosis 1
HP:0012478 Temporomandibular joint ankylosis 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
MYMK myomaker, myoblast fusion factor 389827