Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
Findings
No curated finding names Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961.
Definition from the Mondo Disease Ontology (MONDO:0009522), read 2026-09-29. CC BY 4.0.
Features
16 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 eyebrow morphologyHPOHP:0000534
- Very frequent (80% to 99% of cases)
- Decreased fertilityHPOHP:0000144
- Very frequent (80% to 99% of cases)
- Delayed eruption of teethHPOHP:0000684
- Very frequent (80% to 99% of cases)
- Delayed pubertyHPOHP:0000823
- Very frequent (80% to 99% of cases)
- Depressed nasal ridgeHPOHP:0000457
- Very frequent (80% to 99% of cases)
- Generalized hirsutismHPOHP:0002230
- Very frequent (80% to 99% of cases)
Show the remaining 4
- Kidney stoneHPOHP:0000787
- Very frequent (80% to 99% of cases)
- Palmoplantar keratodermaHPOHP:0000982
- Very frequent (80% to 99% of cases)
- Shagreen patchHPOHP:0009721
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of
Other names
4 names
Resolves to: Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
- Also called
- Berlin syndromeectodermal dysplasia, Berlin typeLEUKOMELANODERMA, infantilism, intellectual disability, hypodontia, hypotrichosisLEUKOMELANODERMA, infantilism, mental retardation, hypodontia, hypotrichosis