pseudoaminopterin syndrome
Findings
No curated finding names pseudoaminopterin syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature.
Definition from the Mondo Disease Ontology (MONDO:0010865), read 2026-09-29. CC BY 4.0.
Features
63 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.
- Abnormal temporal bone morphologyHPOHP:0009911
- Frequent (30% to 79% of cases)
- Abnormality of limbsHPOHP:0040064
- Frequent (30% to 79% of cases)
- BlepharophimosisHPOHP:0000581
- Frequent (30% to 79% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
- Frontal upsweep of hairHPOHP:0002236
- Frequent (30% to 79% of cases)
- High palateHPOHP:0000218
- Frequent (30% to 79% of cases)
- Highly arched eyebrow
Show the remaining 51
- Posteriorly rotated earsHPOHP:0000358
- Frequent (30% to 79% of cases)
- Prominent nasal bridgeHPOHP:0000426
- Frequent (30% to 79% of cases)
- ProptosisHPOHP:0000520
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- Underdeveloped supraorbital ridgesHPOHP:0009891
- Frequent (30% to 79% of cases)
- Absent earlobeHPOHP:0000387
- Occasional (5% to 29% of cases)
Where it sits
Other names
2 names
Resolves to: pseudoaminopterin syndrome
- Also called
- aminopterin syndrome-like sine aminopterinASSA