Dubowitz syndrome
MONDO:0009124Mondo
Findings
No curated finding names Dubowitz syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare multiple congenital syndrome characterized primarily by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.
Definition from the Mondo Disease Ontology (MONDO:0009124), read 2026-09-29. CC BY 4.0.
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
111 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.
- Broad nasal tipHPOHP:0000455
- 1 of 1 reported patient
- Clinodactyly of the 5th fingerHPOHP:0004209
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- 1 of 1 reported patient · Infantile onset
- Occasional (5% to 29% of cases)
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- HypocholesterolemiaHPOHP:0003146
- 1 of 1 reported patient
- MicrocephalyHPO · MondoHP:0000252
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
Show the remaining 99
- Abnormality of thumb phalanxHPOHP:0009602
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the thumbHPOHP:0009601
- Very frequent (80% to 99% of cases)
- Broad thumbHPOHP:0011304
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511