Juberg-Hayward syndrome
MONDO:0008992Mondo
Findings
No curated finding names Juberg-Hayward syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit.
Definition from the Mondo Disease Ontology (MONDO:0008992), read 2026-09-29. CC BY 4.0.
Features
26 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.
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- Severe short statureHPOHP:0003510
- Very frequent (80% to 99% of cases)
- Wide noseHPOHP:0000445
- Very frequent (80% to 99% of cases)
- Abnormal eyebrow morphologyHPOHP:0000534
- Frequent (30% to 79% of cases)
- Abnormal finger morphologyHPOHP:0001167
- Frequent (30% to 79% of cases)
- Abnormal metacarpal morphologyHPOHP:0005916
- Frequent (30% to 79% of cases)
- Abnormal rib morphologyHPOHP:0000772
- Frequent (30% to 79% of cases)
- Abnormal vertebral morphologyHPOHP:0003468
- Frequent (30% to 79% of cases)
- Abnormality of the elbowHPOHP:0009811
- Frequent (30% to 79% of cases)
- Abnormality of the wristHPOHP:0003019
- Frequent (30% to 79% of cases)
- HammertoeHPOHP:0001765
- Frequent (30% to 79% of cases)
Show the remaining 14
- Highly arched eyebrowHPOHP:0002553
- Frequent (30% to 79% of cases)
- Horseshoe kidneyHPOHP:0000085
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
- Hypoplasia of the radiusHPOHP:0002984
- Frequent (30% to 79% of cases)
- HypospadiasHPOHP:0000047
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
Where it sits
Other names
2 names
Resolves to: Juberg-Hayward syndrome
- Also called
- cleft lip/palate-abnormal thumbs-microcephaly syndromeOrocraniodigital Syndrome