congenital absence of upper arm and forearm with hand present
MONDO:0017441Mondo
Findings
No curated finding names congenital absence of upper arm and forearm with hand present yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A congenital malformation in which the upper portion of a limb is either shortened or absent.
Definition from the Mondo Disease Ontology (MONDO:0017441), read 2026-09-29. CC BY 4.0.
- Onset and course
- Stillbirth
HPO, annotations 2026-09-02
Features
17 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.
- Upper limb phocomeliaHPOHP:0009813
- Very frequent (80% to 99% of cases)
- Abnormal cardiac septum morphologyHPOHP:0001671
- Occasional (5% to 29% of cases)
- Abnormal heart morphologyHPOHP:0001627
- Occasional (5% to 29% of cases)
- Abnormal thorax morphologyHPOHP:0000765
- Occasional (5% to 29% of cases)
- Abnormality of the faceHPOHP:0000271
- Occasional (5% to 29% of cases)
- Abnormality of the musculoskeletal systemHPOHP:0033127
- Occasional (5% to 29% of cases)
Show the remaining 5
- Congenital malformation of the great arteriesHPOHP:0011603
- Very rare (1% to 4% of cases)
- PolydactylyHPOHP:0010442
- Very rare (1% to 4% of cases)
- Renal agenesisHPOHP:0000104
- Very rare (1% to 4% of cases)
- Small for gestational ageHPOHP:0001518
- Very rare (1% to 4% of cases)
- SyndactylyHPOHP:0001159
- Very rare (1% to 4% of cases)
Where it sits
- A kind of
Other names
2 names
Resolves to: congenital absence of upper arm and forearm with hand present
- Also called
- humero-radio-ulnar intercalary transverse meromeliaphocomelia