Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
Findings
No curated finding names Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis is an extremely rare congenital limb malformation syndrome, described in only 3 patients to date, and characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.
Definition from the Mondo Disease Ontology (MONDO:0008806), 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.
- Aplasia/Hypoplasia of the phalanges of the handHPOHP:0009767
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the phalanges of the toesHPOHP:0010173
- Very frequent (80% to 99% of cases)
- HemivertebraeHPOHP:0002937
- Very frequent (80% to 99% of cases)
- Split footHPOHP:0001839
- Very frequent (80% to 99% of cases)
- Abnormal female external genitalia morphologyHPOHP:0000055
- Frequent (30% to 79% of cases)
- Abnormal metacarpal morphologyHPOHP:0005916
- Frequent (30% to 79% of cases)
Show the remaining 6
- Patent ductus arteriosusHPOHP:0001643
- Frequent (30% to 79% of cases)
- Persistent cloacaHPOHP:0012621
- Frequent (30% to 79% of cases)
- Pulmonary hypoplasiaHPOHP:0002089
- Frequent (30% to 79% of cases)
- Renal hypoplasia/aplasiaHPOHP:0008678
- Frequent (30% to 79% of cases)
- Toe syndactylyHPOHP:0001770
- Frequent (30% to 79% of cases)
- Vaginal fistulaHPOHP:0004320
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
- Also called
- Johnson-Munson syndrome