holoprosencephaly-radial heart renal anomalies syndrome
MONDO:0008488Mondo
Findings
No curated finding names holoprosencephaly-radial heart renal anomalies syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Holoprosencephaly-radial heart renal anomalies syndrome is characterized by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder.
Definition from the Mondo Disease Ontology (MONDO:0008488), read 2026-09-29. CC BY 4.0.
Features
28 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.
- Abnormality of the outer earHPOHP:0000356
- Very frequent (80% to 99% of cases)
- Aplasia of the noseHPOHP:0009927
- Very frequent (80% to 99% of cases)
- Atresia of the external auditory canalHPOHP:0000413
- Very frequent (80% to 99% of cases)
- HoloprosencephalyHPOHP:0001360
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- Absent gallbladderHPOHP:0011467
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the thumbHPOHP:0009601
- Frequent (30% to 79% of cases)
- Hypoplasia of the radiusHPOHP:0002984
- Frequent (30% to 79% of cases)
- Hypoplasia of the ulnaHPOHP:0003022
- Frequent (30% to 79% of cases)
- MicrophthalmiaHPOHP:0000568
- Frequent (30% to 79% of cases)
- Orofacial cleftHPOHP:0000202
- Frequent (30% to 79% of cases)
- Vertebral segmentation defectHPOHP:0003422
- Frequent (30% to 79% of cases)
Show the remaining 16
- Abnormal humerus morphologyHPOHP:0031095
- Occasional (5% to 29% of cases)
- Abnormal localization of kidneyHPOHP:0100542
- Occasional (5% to 29% of cases)
- Abnormality of neuronal migrationHPOHP:0002269
- Occasional (5% to 29% of cases)
- CyclopiaHPOHP:0009914
- Occasional (5% to 29% of cases)
- Foot polydactylyHPOHP:0001829
- Occasional (5% to 29% of cases)
- Hearing impairmentHPOHP:0000365
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: holoprosencephaly-radial heart renal anomalies syndrome
- Also called
- Steinfeld syndrome