radioulnar synostosis-developmental delay-hypotonia syndrome
Findings
No curated finding names radioulnar synostosis-developmental delay-hypotonia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears).
Definition from the Mondo Disease Ontology (MONDO:0009952), read 2026-09-29. CC BY 4.0.
Features
20 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.
- Abnormal dermatoglyphicsHPOHP:0007477
- Very frequent (80% to 99% of cases)
- Abnormal palate morphologyHPOHP:0000174
- Very frequent (80% to 99% of cases)
- Abnormal speech patternHPOHP:0002167
- Very frequent (80% to 99% of cases)
- Abnormality of the musculatureHPOHP:0003011
- Very frequent (80% to 99% of cases)
- DolichocephalyHPOHP:0000268
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
- Very frequent (80% to 99% of cases)
Show the remaining 8
- Prominent nasal bridgeHPOHP:0000426
- Very frequent (80% to 99% of cases)
- Prominent noseHPOHP:0000448
- Very frequent (80% to 99% of cases)
- Protruding earHPOHP:0000411
- Very frequent (80% to 99% of cases)
- Radioulnar synostosisHPOHP:0002974
- Very frequent (80% to 99% of cases)
- StrabismusHPOHP:0000486
- Very frequent (80% to 99% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Frequent (30% to 79% of cases)
Where it sits
Other names
2 names
Resolves to: radioulnar synostosis-developmental delay-hypotonia syndrome
- Also called
- Der Kaloustian-McIntosh-Silver syndromeradioulnar synostosis with developmental delay and hypotonia syndrome