Carey-Fineman-Ziter syndrome

What it is

A rare multiple congenital anomalies/dysmorphic syndrome characterized by non-specific or central hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), congenital myopathy, developmental delay and failure to thrive. Intellectual disability have also been reported in some patients. Variable clinical features may include macro/micro or plagiacephaly, facial dysmorphism, brain anomalies, septal defects, respiratory insufficiency, gastrointestinal problems including poor/absent swallowing, joint contactures, tapering fingers, clubfoot and scoliosis.

Key facts

Prevalence

<1 / 1 000 000

Age of onset

Neonatal

Inheritance

Autosomal recessive

Classified as

Malformation syndrome

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Genes

ICD-10 codes

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references