aphalangy-syndactyly-microcephaly syndrome
MONDO:0010882Mondo
Findings
No curated finding names aphalangy-syndactyly-microcephaly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Aphalangy-syndactyly-microcephaly is an extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability.
Definition from the Mondo Disease Ontology (MONDO:0010882), read 2026-09-29. CC BY 4.0.
Features
14 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 distal phalanges of the toesHPOHP:0010185
- Very frequent (80% to 99% of cases)
- Hypoplastic fingernailHPOHP:0001804
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- Short distal phalanx of fingerHPOHP:0009882
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Abnormal metacarpal morphologyHPOHP:0005916
- Frequent (30% to 79% of cases)
- Absent toenailHPOHP:0001802
- Frequent (30% to 79% of cases)
- AnonychiaHPOHP:0001798
- Frequent (30% to 79% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Frequent (30% to 79% of cases)
- Finger symphalangismHPOHP:0009700
- Frequent (30% to 79% of cases)
- Hypoplastic toenailsHPOHP:0001800
- Frequent (30% to 79% of cases)
- Postaxial foot polydactylyHPOHP:0001830
- Frequent (30% to 79% of cases)
Show the remaining 2
- Split footHPOHP:0001839
- Frequent (30% to 79% of cases)
- Toe syndactylyHPOHP:0001770
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: aphalangy-syndactyly-microcephaly syndrome
- Also called
- Aphalangia, partial, with syndactyly and Duplication of metatarsal type 4