Intellectual disability-nasal speech-craniofacial dysmorphism syndrome

What it is

A rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, hypotonia and characteristic nasal speech associated with language delay. Distinctive craniofacial dysmorphic features include a high and flat forehead, straight and thick eyebrows, deep-set eyes, upslanting palpebral fissures, short triangular nose with anteverted nares, thin upper lip, mild micrognathia/retrognathia, and low-set ears. Feeding problems, seizures, behavioral abnormalities, variable skeletal and hand/foot anomalies may also be present in some patients. This syndrome can develop in patients harboring CNOT2 mutation or intragenic deletion, or presenting with 12q15q21 microdeletion.

Key facts

Prevalence

<1 / 1 000 000

Age of onset

Childhood, Infancy

Inheritance

Autosomal dominant

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.

Genes reported in subtypes

Orphanet records this gene on 2 more specific entries under this disorder, not on this entry itself:

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Cross-references