Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome

What it is

A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, severe language delay/absence of language and impaired motor skills. All affected individuals present with dysmorphic features including coarse facies, prominent forehead, board depressed nasal root, long smooth philtrum, tented mouth, and low-set ears. Behavioral problems including tendency of self-injury, hyperactivity, aggressivity, and outbursts of anger are reported in the majority of the patients. Defects in nuclear lobulation, reminiscent of Pelger-Huët anomaly are frequently detected in cytological examinations.

Key facts

Prevalence

<1 / 1 000 000

Age of onset

Antenatal, 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.

Gene

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