microcephalic primordial dwarfism, Toriello type
MONDO:0009616Mondo
Findings
No curated finding names microcephalic primordial dwarfism, Toriello type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Microcephalic primordial dwarfism, Toriello type is characterized by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive.
Definition from the Mondo Disease Ontology (MONDO:0009616), read 2026-09-29. CC BY 4.0.
Features
18 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 epiphysis morphologyHPOHP:0005930
- Very frequent (80% to 99% of cases)
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
- CataractHPOHP:0000518
- Very frequent (80% to 99% of cases)
- Decreased circulating IgG concentrationHPOHP:0004315
- Very frequent (80% to 99% of cases)
- Decreased circulating IgM concentrationHPOHP:0002850
- Very frequent (80% to 99% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
Show the remaining 6
- Severe short statureHPOHP:0003510
- Very frequent (80% to 99% of cases)
- Abnormal rib morphologyHPOHP:0000772
- Frequent (30% to 79% of cases)
- Decreased total neutrophil countHPOHP:0001875
- Frequent (30% to 79% of cases)
- Downturned corners of mouthHPOHP:0002714
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
- VentriculomegalyHPOHP:0002119
- Frequent (30% to 79% of cases)