Ichthyosis-oral and digital anomalies syndrome

What it is

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by ichthyosis, skeletal and digital anomalies (including flexion deformities of the large joints, proximal interphalangeal joints, absent distal flexion crease of fingers, tapering fingers, hypoplastic toes and nails, dislocatable ankles) and facial dysmorphism (including short forehead, epicanthic folds, small mouth with thin upper lip, midline lower lip groove, and fullness of the lateral eyelids, cleft palate can also be present). Additional clinical features may include developmental delay, generalized hypotonia, feeding difficulties, recurrent chest and gastrointestinal infections. There have been no further descriptions in the literature since 1989.

Key facts

Prevalence

<1 / 1 000 000

Age of onset

Infancy, 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.

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