Carey-Fineman-Ziter syndrome 1
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.
Also known as: CFZS1, Carey-Fineman-Ziter syndrome 1, myopathy, congenital nonprogressive, with Moebius sequence and Robin sequence, myopathy-Moebius-Robin syndrome, CFZS, Carey Fineman Ziter syndrome, Moebius sequence, Robin complex, and hypotonia, congenital nonprogressive myopathy with Moebius and Robin sequences, myopathy, congenital nonprogressive with Moebius and Robin sequences.
Category: General
Symptoms associated with Carey-Fineman-Ziter syndrome 1
The following symptoms have been associated with Carey-Fineman-Ziter syndrome 1 in medical literature. Not everyone experiences the same symptoms.
Distal muscle weakness
Reduced strength of the musculature of the distal extremities....
Dysphagia
Difficulty in swallowing....
Facial palsy
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to contr...
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Gastroesophageal reflux
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower...
Proximal muscle weakness
A lack of strength of the proximal muscles....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Sensorineural hearing impairment
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve....
Weakness of facial musculature
Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve)....
Tests used to investigate Carey-Fineman-Ziter syndrome 1
Healthcare providers may order these tests when evaluating Carey-Fineman-Ziter syndrome 1. Test selection is a clinical decision made by a qualified professional.
CBC with Differential
Measures red blood cells, white blood cells, and platelets to help evaluate overall health and detect disorder...
Comprehensive Metabolic Panel (CMP)
Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...
Urinalysis
Examines urine content to help detect urinary tract infections, kidney disease, and diabetes....
Conditions with overlapping symptoms
These conditions share symptoms with Carey-Fineman-Ziter syndrome 1, which is why a clinical evaluation is important.
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multiple mitochondrial dysfunctions syndrome 9b
A mitochondrial dysfunction syndrome in which the cause of the disease is a mutation in the FDXR gene. It is c...
neurodevelopmental disorder with hypotonia, neuropathy, and deafness
neurodevelopmental disorder with hypotonia, neuropathy, and deafness is a medical condition that may be associ...
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation i...
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthri...
Frequently Asked Questions
What is Carey-Fineman-Ziter syndrome 1?
Carey-Fineman-Ziter syndrome 1 is a health condition described in medical literature. 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.
What are the symptoms of Carey-Fineman-Ziter syndrome 1?
Carey-Fineman-Ziter syndrome 1 is associated with 9 symptoms in the medical literature we index, including Distal muscle weakness, Dysphagia, Facial palsy, Failure to thrive, Gastroesophageal reflux, Proximal muscle weakness. Symptoms vary widely between individuals.
How is Carey-Fineman-Ziter syndrome 1 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Carey-Fineman-Ziter syndrome 1 include CBC with Differential, Comprehensive Metabolic Panel (CMP), Urinalysis. This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have Carey-Fineman-Ziter syndrome 1, please discuss your symptoms with a qualified healthcare provider.