facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
MONDO:0016031Mondo
Findings
No curated finding names facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
21 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.
- AnorexiaHPOHP:0002039
- Very frequent (80% to 99% of cases)
- Anteverted naresHPOHP:0000463
- Very frequent (80% to 99% of cases)
- CachexiaHPOHP:0004326
- Very frequent (80% to 99% of cases)
- Finger syndactylyHPOHP:0006101
- Very frequent (80% to 99% of cases)
- Genu varumHPOHP:0002970
- Very frequent (80% to 99% of cases)
- Midline defect of the noseHPOHP:0004122
- Very frequent (80% to 99% of cases)
- PtosisHPOHP:0000508
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Abnormal retinal pigmentationHPOHP:0007703
- Frequent (30% to 79% of cases)
- Abnormality of the thyroid glandHPOHP:0000820
- Frequent (30% to 79% of cases)
- Abnormality of the voiceHPOHP:0001608
- Frequent (30% to 79% of cases)
- Asymmetry of the thoraxHPOHP:0001555
- Frequent (30% to 79% of cases)
Show the remaining 9
- KyphosisHPOHP:0002808
- Frequent (30% to 79% of cases)
- Melanocytic nevusHPOHP:0000995
- Frequent (30% to 79% of cases)
- Multiple cafe-au-lait spotsHPOHP:0007565
- Frequent (30% to 79% of cases)
- Pectus excavatumHPOHP:0000767
- Frequent (30% to 79% of cases)
- ScoliosisHPOHP:0002650
- Frequent (30% to 79% of cases)
- Short hard palateHPOHP:0010290
- Frequent (30% to 79% of cases)
Where it sits
Other names
2 names
Resolves to: facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
- Also called
- faces syndromeFriedman-Goodman syndrome