keratosis follicularis-dwarfism-cerebral atrophy syndrome
MONDO:0010638Mondo
Findings
No curated finding names keratosis follicularis-dwarfism-cerebral atrophy syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalized alopecia and microcephaly were also present.
Definition from the Mondo Disease Ontology (MONDO:0010638), read 2026-09-29. CC BY 4.0.
Features
6 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.
- Absent eyebrowHPOHP:0002223
- Frequent (30% to 79% of cases)
- Absent eyelashesHPOHP:0000561
- Frequent (30% to 79% of cases)
- Cerebral atrophyHPOHP:0002059
- Frequent (30% to 79% of cases)
- Generalized keratosis follicularisHPOHP:0007439
- Frequent (30% to 79% of cases)
- MicrocephalyHPOHP:0000252
- Frequent (30% to 79% of cases)
- Severe short statureHPOHP:0003510
- Frequent (30% to 79% of cases)
Where it sits
- A kind of