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

CFZS is caused by mutations in the gene MYMK that encodes a protein necessary for muscle development.

Signs and symptoms

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

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

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

• NIH info on Carey-Fineman-Ziter syndrome

Carey-Fineman-Ziter syndrome is a rare disease.