Carey-Fineman-Ziter syndrome
Other Names: Carey Fineman Ziter syndrome; CFZ syndrome; Moebius sequence, Robin complex, and hypotonia; Myopathy, congenital nonprogressive with Moebius and Robin sequences; Carey-Fineman-Ziter syndrome; Myopathy-Moebius-Robin syndrome; Congenital nonprogressive myopathy with Moebius and Robin sequences; CFZS
Carey-Fineman-Ziter syndrome (CFZS) is a very rare genetic muscular disorder present at birth (congenital myopathy) characterized by facial weakness or paralysis, and a small or retracted chin and cleft palate (Pierre-Robin sequence), among other symptoms.
Cause[edit | edit source]
CFZS is caused by mutations in the gene MYMK that encodes a protein necessary for muscle development.
Signs and symptoms[edit | edit source]
Signs and symptoms may include:
80%-99% of people have these symptoms
- Anteverted nares(Nasal tip, upturned)
- Aplasia/Hypoplasia of the tongue
- Brachydactyly(Short fingers or toes)
- Downslanted palpebral fissures(Downward slanting of the opening between the eyelids)
- Epicanthus(Eye folds)
- Facial palsy(Bell's palsy)
- Impaired ocular abduction
- Long philtrum
- Micrognathia(Little lower jaw)
- Muscular hypotonia(Low or weak muscle tone)
- Pierre-Robin sequence
- Ptosis(Drooping upper eyelid)
- Short nose(Decreased length of nose)
- Skeletal muscle atrophy(Muscle degeneration)
- Thin vermilion border(Decreased volume of lip)
30%-79% of people have these symptoms
- Cleft palate(Cleft roof of mouth)
- Glossoptosis(Retraction of the tongue)
- High palate(Elevated palate)
- Intellectual disability(Mental deficiency)
- Microcephaly(Abnormally small skull)
- Scoliosis
- Short stature(Decreased body height)
- Talipes equinovarus(Club feet)
5%-29% of people have these symptoms
- Aplasia of the pectoralis major muscle
- Aplasia/Hypoplasia of the cerebellum(Absent/small cerebellum)
- Cerebral calcification(Abnormal deposits of calcium in the brain)
- Glandular hypospadias
- Global developmental delay
- Hydronephrosis
- Hypertensive crisis
- Laryngeal stenosis
- Myopathy(Muscle tissue disease)
- Ulnar deviation of finger(Finger bends toward pinky)
- Ventriculomegaly
1%-4% of people have these symptoms
- Cataract(Clouding of the lens of the eye)
- Glaucoma
Diagnosis[edit | edit source]
Diagnosis is made by sequencing the MYMK gene. Previously diagnosis could be made on clinical features, though brain anomalies could only be determined with an MRI.
Differential diagnosis
- Native American myopathy
- Moebius syndrome
Treatment[edit | edit source]
Treatment depends on the symptoms. In one case report a patient with scoliosis was treated with a rod placement.
NIH genetic and rare disease info[edit source]
Carey-Fineman-Ziter syndrome is a rare disease.
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