intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
Findings
No curated finding names intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome is characterized by a hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission is autosomal recessive.
Definition from the Mondo Disease Ontology (MONDO:0015458), read 2026-09-29. CC BY 4.0.
- Onset and course
- Death in infancy
HPO, annotations 2026-09-02
Features
26 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormality of immune system physiologyHPOHP:0010978
- Very frequent (80% to 99% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- Very frequent (80% to 99% of cases)
- HypertoniaHPOHP:0001276
- Very frequent (80% to 99% of cases)
- Hypoplasia of the corpus callosumHPOHP:0002079
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
Show the remaining 14
- Camptodactyly of fingerHPOHP:0100490
- Frequent (30% to 79% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Frequent (30% to 79% of cases)
- MicrognathiaHPOHP:0000347
- Frequent (30% to 79% of cases)
- TalipesHPOHP:0001883
- Frequent (30% to 79% of cases)
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Occasional (5% to 29% of cases)
- Abnormality of the voiceHPOHP:0001608
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
- Also called
- Da Silva syndrome