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Start free with EleplanSLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome
ORPHA:633021Clinical subtype
Also called Kilquist syndrome
What it is
A rare form of SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome characterized by profound global developmental delay, impaired intellectual development, absent speech, sensorineural hearing loss, and hypotonia (present at birth). Patients have poor overall growth with severe feeding difficulties associated with gastrointestinal anomalies (including gastroesophageal reflux, midgut malrotation). Secretory dysfunction (including tear, sweat, and saliva production) causing dry mouth and recurrent bronchial mucus plugging are commonly observed. Differing from other form of the syndrome, these patients are often present with mild and non specific dysmorphic features (narrow forehead, oblong face, low-set ears, wide mouth, mandibular prognathia) and have multiple malformations (gastrointestinal, brain, choanal).
Key facts
- Inheritance
- Autosomal recessive
- Classified as
- Clinical subtype
Recorded for the broader condition
- Prevalence
- <1 / 1 000 000SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome
- Age of onset
- Adolescent, Childhood, InfancySLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
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
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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